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Articles de revues sur le sujet "Genes families"
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Parsons, Oscar A., et Sara Jo Nixon. « Alcohol, Families, (and Genes) ». Contemporary Psychology : A Journal of Reviews 36, no 11 (novembre 1991) : 1000. http://dx.doi.org/10.1037/030397.
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Knowles, Jonathan, Päivi Lehtovaara et Tuula Teeri. « Cellulase families and their genes ». Trends in Biotechnology 5, no 9 (septembre 1987) : 255–61. http://dx.doi.org/10.1016/0167-7799(87)90102-8.
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Goldin, Lynn R., et Susan L. Slager. « Familial CLL : Genes and Environment ». Hematology 2007, no 1 (1 janvier 2007) : 339–45. http://dx.doi.org/10.1182/asheducation-2007.1.339.
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Abstract Families with multiple individuals affected with chronic lymphocytic leukemia (CLL) and other related B-cell tumors have been described in the literature. Familial CLL does not appear to differ from sporadic CLL in terms of prognostic markers and clinical outcome. While some environmental factors (such as farming-related exposures and occupational chemicals) may increase risk of CLL, results of epidemiologic studies have been generally inconsistent. Rates of CLL in the population show significant international variation, with the highest rates in the U.S. and Europe and the lowest rates in Asia. Migrants from Asia to the U.S. also have low rates of CLL, which supports a greater role for genetic compared with environmental risk factors. Large, population-based case-control and cohort studies have also shown significant familial aggregation of CLL and related conditions including non-Hodgkin and Hodgkin lymphoma. Monoclonal B-cell lymphocytosis also aggregates in families with CLL. However, the clinical implication of familial aggregation is minimal given the overall rarity of CLL. Linkage studies have been conducted in high-risk CLL families to screen the whole genome for loci that contribute to susceptibility, but no gene mutations have yet been identified by this method. Association studies of candidate genes have implicated immune function and other genes, but more studies are needed to verify these findings. The ability to conduct large-scale genomic studies will play an important role in detecting susceptibility genes for CLL over the next few years and thereby help to delineate etiologic pathways.
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Weller, Claudia M., Nadine Pelzer, Boukje de Vries, Mercè Artigas López, Oriol De Fàbregues, Julio Pascual, María A. Ramos Arroyo et al. « Two novel SCN1A mutations identified in families with familial hemiplegic migraine ». Cephalalgia 34, no 13 (4 avril 2014) : 1062–69. http://dx.doi.org/10.1177/0333102414529195.
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Background Familial hemiplegic migraine (FHM) is a rare monogenic subtype of migraine with aura, characterized by motor auras. The majority of FHM families have mutations in the CACNA1A and ATP1A2 genes; less than 5% of FHM families are explained by mutations in the SCN1A gene. Here we screened two Spanish FHM families for mutations in the FHM genes. Methods We assessed the clinical features of both FHM families and performed direct sequencing of all coding exons (and adjacent sequences) of the CACNA1A, ATP1A2, PRRT2 and SCN1A genes. Results FHM patients in both families had pure hemiplegic migraine with highly variable severity and frequency of attacks. We identified a novel SCN1A missense mutation p.Ile1498Met in all three tested hemiplegic migraine patients of one family. In the other family, novel SCN1A missense mutation p.Phe1661Leu was identified in six out of eight tested hemiplegic migraine patients. Both mutations affect amino acid residues that either reside in an important functional domain (in the case of Ile1498) or are known to be important for kinetic properties of the NaV1.1 channel (in the case of Phe1661). Conclusions We identified two mutations in families with FHM. SCN1A mutations are an infrequent but important cause of FHM. Genetic testing is indicated in families when no mutations are found in other FHM genes.
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Zheng, Guoqiao, Calogerina Catalano, Obul Reddy Bandapalli, Nagarajan Paramasivam, Subhayan Chattopadhyay, Matthias Schlesner, Rolf Sijmons et al. « Cancer Predisposition Genes in Cancer-Free Families ». Cancers 12, no 10 (27 septembre 2020) : 2770. http://dx.doi.org/10.3390/cancers12102770.
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Familial clustering, twin concordance, and identification of high- and low-penetrance cancer predisposition variants support the idea that there are families that are at a high to moderate excess risk of cancer. To what extent there may be families that are protected from cancer is unknown. We wanted to test genetically whether cancer-free families share fewer breast, colorectal, and prostate cancer risk alleles than the population at large. We addressed this question by whole-genome sequencing (WGS) of 51 elderly cancer-free individuals whose numerous (ca. 1000) family members were found to be cancer-free (‘cancer-free families’, CFFs) based on face-to-face interviews. The average coverage of the 51 samples in the WGS was 42x. We compared cancer risk allele frequencies in cancer-free individuals with those in the general population available in public databases. The CFF members had fewer loss-of-function variants in suggested cancer predisposition genes compared to the ExAC data, and for high-risk cancer predisposition genes, no pathogenic variants were found in CFFs. For common low-penetrance breast, colorectal, and prostate cancer risk alleles, the results were not conclusive. The results suggest that, in line with twin and family studies, random environmental causes are so dominant that a clear demarcation of cancer-free populations using genetic data may not be feasible.
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Alda, Martin. « Bipolar Disorder : From Families to Genes ». Canadian Journal of Psychiatry 42, no 4 (mai 1997) : 378–87. http://dx.doi.org/10.1177/070674379704200404.
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Background: Genetic factors are known to contribute to the etiology of bipolar illness, but the actual genetic mechanisms remain to be clarified. Methods: This paper reviews the research undertaken to establish the genetic basis of bipolar illness and to elucidate the nature of its genetic predisposition. Results: The presented findings suggest that bipolar affective disorder is a heterogeneous condition characterized by a complex relationship between the genetic susceptibility and the clinical presentation. Linkage studies have generated promising and replicated findings on chromosomes 18 and 21. Conclusion: In spite of the methodological difficulties inherent in the genetic study of psychiatric disorders, recent investigations have made important advances and promise to identify specific susceptibility genes.
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Smith, Simon A., et Bruce A. J. Ponder. « Predisposing Genes in Breast and Ovarian Cancer : An Overview ». Tumori Journal 79, no 5 (octobre 1993) : 291–96. http://dx.doi.org/10.1177/030089169307900501.
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The isolation of genes that predispose to familial disease is an important goal in cancer research. The identification of such genes « opens up » the possibility of genetic diagnosis in families so that individuals who are at risk of cancer through inheriting a predisposing mutation can be Identified. Genes that are involved in familial cancer syndromes may also be important in the pathogenesis of sporadic forms of the disease, which are often more common. In the search for genes that predispose to familial breast and ovarian cancer much recent progress has been made. A locus on the long arm of chromosome 17, in the interval 17q12-21, has been identified by genetic linkage, and appears to be responsible for disease in approximately 40 % of breast cancer families and most families that contain breast and ovarian cancer. The region containing this locus, which has been called BRCA1, has been narrowed to a 3-4 cM interval defined by THRA1, the thyroid hormone receptor locus alpha, and D17S183, an anonymous microsatellite polymorphism. Loci other than BRCA1 that have been identified appear not only to predispose to breast and/or ovarian tumors, but to tumors at other sites too. A new locus has been identified on chromosome 2 which is linked to hereditary non-polyposis colorectal cancer (HNPCC). Families with HNPCC are also at risk of endometrial cancer and tumors of the ovary, amongst other cancer sites. Finally, mutations in the p53 gene are inherited in families with Li-Fraumeni syndrome, a rare cancer syndrome predisposing to breast tumors, sarcomas, leukemia and other cancers. Li-Fraumeni syndrome is also the only inherited cancer syndrome that predisposes at least in part to breast cancer where the actual predisposing gene is known. For the other cancer syndromes, the cloning of the predisposing genes is eagerly awaited.
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Liu, Yaxuan, Hafdis T. Helgadottir, Pedram Kharaziha, Jungmin Choi, Francesc López-Giráldez, Shrikant M. Mane, Veronica Höiom, Carl Christofer Juhlin, Catharina Larsson et Svetlana Bajalica-Lagercrantz. « Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer ». Biomedicines 10, no 5 (26 avril 2022) : 1004. http://dx.doi.org/10.3390/biomedicines10051004.
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Breast cancer is the most prevalent malignancy among women worldwide and hereditary breast cancer (HBC) accounts for about 5–10% of the cases. Today, the most recurrent genes known are BRCA1 and BRCA2, accounting for around 25% of familial cases. Although thousands of loss-of-function variants in more than twenty predisposing genes have been found, the majority of familial cases of HBC remain unexplained. The aim of this study was to identify new predisposing genes for HBC in three non-BRCA families with autosomal dominant inheritance pattern using whole-exome sequencing and functional prediction tools. No pathogenic variants in known hereditary cancer-related genes could explain the breast cancer susceptibility in these families. Among 2,122 exonic variants with maximum minor allele frequency (MMAF) < 0.1%, between 17–35 variants with combined annotation-dependent depletion (CADD) > 20 segregated with disease in the three analyzed families. Selected candidate genes, i.e., UBASH3A, MYH13, UTP11L, and PAX7, were further evaluated using protein expression analysis but no alterations of cancer-related pathways were observed. In conclusion, identification of new high-risk cancer genes using whole-exome sequencing has been more challenging than initially anticipated, in spite of selected families with pronounced family history of breast cancer. A combination of low- and intermediate-genetic-risk variants may instead contribute the breast cancer susceptibility in these families.
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Hallamaa, K. M., G. F. Browning et S. L. Tang. « Lipoprotein Multigene Families in Mycoplasma pneumoniae ». Journal of Bacteriology 188, no 15 (1 août 2006) : 5393–99. http://dx.doi.org/10.1128/jb.01819-05.
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ABSTRACT In this study, reverse transcriptase PCR was employed to construct a transcriptional profile of Mycoplasma pneumoniae lipoprotein genes contained in six multigene families. Most genes were found to be expressed. Many truncated lipoprotein genes were expressed, often polycistronically with other truncated genes, indicating that these genes may still be functional.
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Chubb, Daniel, Peter Broderick, Matthew Frampton, Ben Kinnersley, Amy Sherborne, Steven Penegar, Amy Lloyd, Yussanne P. Ma, Sara E. Dobbins et Richard S. Houlston. « Genetic Diagnosis of High-Penetrance Susceptibility for Colorectal Cancer (CRC) Is Achievable for a High Proportion of Familial CRC by Exome Sequencing ». Journal of Clinical Oncology 33, no 5 (10 février 2015) : 426–32. http://dx.doi.org/10.1200/jco.2014.56.5689.
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Purpose Knowledge of the contribution of high-penetrance susceptibility to familial colorectal cancer (CRC) is relevant to the counseling, treatment, and surveillance of CRC patients and families. Patients and Methods To quantify the impact of germline mutation to familial CRC, we sequenced the mismatch repair genes (MMR) APC, MUTYH, and SMAD4/BMPR1A in 626 early-onset familial CRC cases ascertained through a population-based United Kingdom national registry. In addition, we evaluated the contribution of mutations in the exonuclease domain (exodom) of POLE and POLD1 genes that have recently been reported to confer CRC risk. Results Overall mutations (pathogenic, likely pathogenic) in MMR genes make the highest contribution to familial CRC (10.9%). Mutations in the other established CRC genes account for 3.3% of cases. POLE/POLD1 exodom mutations were identified in three patients with family histories consistent with dominant transmission of CRC. Collectively, mutations in the known genes account for 14.2% of familial CRC (89 of 626 cases; 95% CI = 11.5, 17.2). Conclusion A genetic diagnosis is feasible in a high proportion of familial CRC. Mainstreaming such analysis in clinical practice should enable the medical management of patients and their families to be optimized. Findings suggest CRC screening of POLE and POLD1 mutation carriers should be comparable to that afforded to those at risk of HNPCC. Although the risk of CRC associated with unexplained familial CRC is in general moderate, in some families the risk is substantive and likely to be the consequence of unidentified genes, as exemplified by POLE and POLD1. Our findings have utility in the design of genetic analyses to identify such novel CRC risk genes.
Thèses sur le sujet "Genes families"
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Zid, Mouldi. « Gene Conversions in the Siglec and CEA Immunoglobulin Gene Families of Primates ». Thèse, Université d'Ottawa / University of Ottawa, 2013. http://hdl.handle.net/10393/23625.
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Siglecs and CEA are two families of cell surface proteins belonging to the immunoglobulin superfamily. They are thought to be involved in cell-cell interactions and have various other biological functions. We used the GENECONV program that applies statistical tests to detect gene conversion events in each family of five primate species. For the Siglec family, we found that gene conversions are frequent between CD33rSiglec genes, but are absent between their conserved Siglec genes. For the CEA family, half of gene conversion events detected are located in coding regions. A significant positive correlation was found between the length of the conversions and the similarity of the converted regions only in the Siglec gene family. Moreover, we found an increase in GC-content and similarity in converted regions compared to non-converted regions of the two families. Furthermore, in the two families, gene conversions occur more frequently in the extracellular domains of proteins, and rarely in their transmembrane and cytoplasmic regions. Finally, these two families appear to be evolving neutrally or under negative selection.
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Vehmanen, Paula. « Breast cancer-predisposing genes in Finnish breast and ovarian cancer families ». Helsinki : University of Helsinki, 2001. http://ethesis.helsinki.fi/julkaisut/mat/bioti/vk/vehmanen/.
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Budd, Aidan. « Phylogenies of genes with shared histories : insights into the evolution of vertebrate and bacterial gene families ». Thesis, Royal Holloway, University of London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.422270.
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FERREIRA, Joana Braga de Moraes Marques. « Screening of genes related to inorganic phosphate in families with primary brain calcifications (PBC) ». Universidade Federal de Pernambuco, 2016. https://repositorio.ufpe.br/handle/123456789/26882.
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FACEPE
Primary brain calcification (PBC), also known as idiopathic brain calcification or Fahr's disease, is a rare neurological condition that is characterized by calcium phosphate deposits in the basal ganglia and adjacent areas, movement disorders, headache and neuropsychiatric symptoms. It presents autosomic dominant inheritance and it is associated with two inorganic phosphate transporter coding genes: SLC20A2 and XPR1. Two other genes related to the blood-brain barrier maintenance and integrity are also linked to PBC, the platelet-derived growth factor-β and its receptor (PDGFB and PDGFRB), although their roles in the formation mechanism of the calcifications is not clear yet. For this study, besides the four genes above mentioned, other members of the platelet-derived grown factor family (PDGFA, PDGFRA, PDGFC and PDGFD) have also been selected as candidate genes, for which new primer pairs were designed. All genes above were screened for new variants by Sanger sequencing in fifteen Brazilian unrelated patients with brain calcifications. Sequence in silico analysis was performed using CLC Main Workbench 6.9 software and online tools available in NCBI and GOLDENPATH platforms, resulting in the identification of the first de novo SLC20A2 mutation in a patient diagnosed with PBC (NM_006749.4:c.1158C>G; NP_006740.1:p.Y386*). SLC20A2 is to-date the main gene associated with PBC, with affecting-variants observed in ~50% cases. In order to find SLC20A2 deletions and/or duplications not detected by sequencing, all Brazilian probands were screened by QMPSF (Quantitative Multiplex PCR of Short fluorescent Fragments) and a duplication of the terminal exon was found in a patient with brain calcifications and hyperparatiroidism. Simultaneously, twenty-four French unrelated patients with PBC were also analyzed by QMPSF and partial SLC20A2 deletions were detected in four patients: two with deletion of the exon 2, where the start codon is located; one with deletion of the exon 4; and one with deletion of exons 4 and 5. These results reinforce SLC20A2 role as the main gene associated to PBC, as well as demonstrate that copy number variation analyses, even when revealing only partial deletions or duplications of a gene, are complementary to sequencing and work side by side in the search of genetic variations involved in this disease.
Introdução: A calcificação cerebral primária (CCP), também conhecida como calcificação idiopática dos núcleos da base ou doença de Fahr, é uma condição neurológica caracterizada por depósitos de fosfato de cálcio dos núcleos da base e região de entorno, parkinsonismo e sintomas neuropsiquiátricos. Apresenta herança autossômica dominante e é associada a dois genes codificantes de transportadores de fosfato inorgânico: o SLC20A2 e o XPR1. Dois outros genes relacionados à manutenção e à integridade da barreira hemato-encefálica, o fator de crescimento plaquetário B e seu receptor (PDGFB e PDGFRB), também foram associados à CCP, embora seus papeis no mecanismo de formação das calcificações ainda não estejam claros. Materiais e Métodos: Além dos quatro genes acima, foram selecionados como candidatos outros genes da família dos fatores de crescimento plaquetário (PDGFA, PDGFRA, PDGFC e PDGFD) e das protocaderinas (PCDH12), para os quais foram confeccionados pares de primers utilizados no seu sequenciamento e para análise de variação de número de cópia. Resultados e Discussão: Quinze famílias brasileiras com CCP foram triadas para novas variantes nos genes candidatos por sequenciamento. A análise in silico do sequenciamento foi feita através do software CLC Combined Workbench versão 6.9 e das ferramentas disponíveis nas plataformas online do NCBI e do GOLDENPATH. A partir dessa análise, foi identificada em um probando a primeira mutação de novo do SLC20A2, o principal gene associado a CCP (NM_006749.4:c.1158C>G; NP_006740.1:p.Y386*). A fim de encontrar deleções e/ou duplicações do SLC20A2 não detectadas por sequenciamento, todos os probandos brasileiros com calcificações cerebrais foram triados através da técnica de QMPSF (do inglês, Quantitative Multiplex PCR of Short fluorescent Fragments). Foi encontrada uma duplicação do exon terminal do mesmo gene em um paciente brasileiro com calcificações cerebrais e hiperparatireoidismo. Simultaneamente, foram identificadas deleções parciais no mesmo gene em quatro famílias francesas com CCP. Conclusões: Esses resultados reafirmam o SLC20A2 como o principal gene associado a CCP, bem como demonstram que análises de variação de número de cópia (CNV), ainda que parciais, são complementares ao sequenciamento na busca por variantes genéticas relacionadas a esta doença.
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Hopwood, Andrew J. « DNA-based techniques for species identification of meat ». Thesis, University of Nottingham, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.339654.
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Cloete, Ruben Earl Ashley. « Investigations of Renin-Angiotensin Aldosterone System (RAAS) genes in hypertrophy in hypertrophic cardiomyopathy (HCM) founder families ». Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/21880.
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Thesis (MScMed)--Stellenbosch University, 2008.ENGLISH ABSTRACT: In hypertrophic cardiomyopathy (HCM), an autosomal dominant disorder, hypertrophy is variable within and between families carrying the same causal mutation, suggesting a role for modifier genes. Associations between left ventricular hypertrophy and left ventricular pressure overload suggested that sequence variants in genes involved in the Renin-Angiotensin Aldosterone System (RAAS) may act as hypertrophy modifiers in HCM, but some of these studies may have been confounded by, amongst other things, lack of adjustment for hypertrophy covariates. To investigate this hypothesis, twenty one polymorphic loci spread across six genes (ACE1, AGT, AGTR1, CYP11B2, CMA and ACE2) of the RAAS were genotyped in 353 subjects from 22 South African HCM-families, in which founder mutations segregate. Genotypes were compared to 17 echocardiographically-derived hypertrophic indices of left ventricular wall thickness at 16 segments covering three longitudinal levels. Family-based association was performed by quantitative transmission disequilibrium testing (QTDT), and mixed effects models to analyse the X-linked gene ACE2, with concurrent adjustment for hypertrophy covariates (age, sex, systolic blood pressure (BP), diastolic BP, body surface area, heart rate and mutation status). Strong evidence of linkage in the absence of association was detected between polymorphisms at ACE1 and posterior and anterior wall thickness (PW and AW, respectively) at the papillary muscle level (pap) and apex level (apx). In single-locus analysis, statistically significant associations were generated between the CYP11B2 rs3097 polymorphism and PW at the mitral valve level (mit) and both PWpap and inferior wall thickness (IW)pap. Statistically significant associations were generated at three AGTR1 polymorphisms, namely, between rs2640539 and AWmit, rs 3772627 and anterior interventricular septum thickness at pap and rs5182 and both IWpap and AWapx. Furthermore, mixed effects model detected statistically significant association between the ACE2 rs879922 polymorphism and both posterior interventricular septum thickness and lateral wall thickness at mit in females only. These data indicate a role for RAAS gene variants, independent of hypertrophy covariates, in modifying the phenotypic expression of hypertrophy in HCM-affected individuals.
AFRIKAANSE OPSOMMING: Hipertrofiese kardiomiopatie (HCM), ‘n autosomale dominante afwyking, toon hoogs variërende hipertrofie binne en tussen families wat dieselfde siekte-veroorsakende mutasie het, hierdie dui op die moontlike betrokkenheid van geassosieerde modifiserende gene. Assosiasies tussen linker ventrikulêre hipertrofie en linker ventrikulêre druk-oorlading stel voor dat volgorde variasies in gene betrokke in die Renin-Angiotensin Aldosteroon Sisteem (RAAS) mag optree as hipertrofie modifiseerders in HCM. Sommige van hierdie soort studies is egter beperk omdat hulle nie gekompenseer het vir kovariante van hipertrofie nie. Om hierdie hipotese te ondersoek, is die genotipe bepaal by een-en-twintig polimorfiese lokusse, verspreid regoor ses RAAS gene (ACE1, AGT, AGTR1, CYP11B2, CMA and ACE2), in 353 kandidate vanuit 22 Suid-Afrikaanse HCM-families in wie stigter mutasies segregeer. Genotipes was vergelyk met 17 eggokardiografies afgeleide hipertrofiese indekse van linker ventrikulêre wanddikte by 16 segmente wat oor drie longitudinale vlakke strek. Familie-gebaseerde assosiasies was bestudeer deur kwantitatiewe transmissie disequilibrium toetsing (QTDT) en gemengde effek modelle om die X-gekoppelde geen ACE2 te analiseer, met gelyktydige kompensasie vir hipertrofie kovariate (ouderdom, geslag, sistoliese bloed druk (BP), diastoliese BP, liggaamsoppervlak area, hartritme en mutasie-status). Sterk indikasies van koppeling in die afwesigheid van assosiasie is waargeneem tussen ACE1 lokusse en posterior wanddikte (PW) asook anterior wanddikte (AW) by die papillêre spier vlak (pap) en die apeks vlak (apx). In enkel-lokus analises is statisties-betekenisvolle assosiasies gevind tussen die CYP11B2 rs3097 polimorfisme en PW by die mitraalklep vlak (mit) en beide die PWpap en inferior wanddikte (IW)pap. Statisties-betekenisvolle assosiasies was verder gevind by drie AGTR1 polimorfismes, naamlik, tussen rs2640539 polimorfisme en AWmit, rs3772627 en die anterior interventrikulêre septumdikte (aIVS) by die pap en rs5182 by beide die IWpap en AWapx. Gemengde-effek modelle het verder assosiasies aangetoon tussen die ACE2 rs879922 polimorfisme en die posterior interventrikulêre septumdikte en die laterale wanddikte by die mit, slegs in vrouens. Hierdie data dui op ‘n kovariaat-onafhanklike rol vir RAAS genetiese variante in die modifisering van die fenotipiese uitdrukking van hipertrofie in HCM-geaffekteerde individue.
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Nilsson, Johanna. « Detection of plasmid families carrying ESBL genes in clinical and environmental E. coli and K. pneumoniae isolates ». Thesis, Högskolan Kristianstad, Fakulteten för naturvetenskap, 2019. http://urn.kb.se/resolve?urn=urn:nbn:se:hkr:diva-19666.
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Extended Spectrum β-Lactamases (ESBLs) are produced by the Enterobacteriaceae bacterial family, mainly by E. coli and K. pneumoniae. As these species are some of the main causes of urinary tract infections and sepsis, ESBL-production is of major concern. Occurrence of ESBLs also gives rise to concern as it is increasing epidemically. This because the genes coding for ESBLs (i.e. bla-genes) are located on plasmids replicating and spreading the replicated copies independently. Plasmids replicate by replicons. Plasmids with the same replicon variant are grouped into the same plasmid family. The aim of this study was to detect plasmid families carrying bla-genes in E. coli and K. pneumoniae from clinical (n = 6) and environmental water (n = 22) isolates. Plasmid family prevalence was examined. Association between plasmid families and bla-genes was also examined. Plasmid families were detected by a PBRT kit (PCR Based Replicon Typing), a multiplex PCR kit that detected 30 replicons, whereof 27 replicons representing the 27 plasmid families in Enterobacteriaceae, and three novel replicons. The IncF plasmid family was the most prevalent for both species in both clinical and environmental isolates. IncF seemed to be prevalent for all examined ESBLs, but it was difficult to associate one bla-gene with one plasmid family as most isolates carried several bla-genes and several plasmid families.Extended Spectrum β-Lactamases (ESBLs) produceras av bakteriefamiljen Enterobacteriaceae, främst av E. coli och K. pneumoniae. Eftersom dessa arter är bland de vanligaste orsakerna till urinvägsinfektioner och sepsis är ESBL-produktion ett allvarligt problem. ESBL är också oroande eftersom det sprids epidemiskt. Detta möjliggörs av att generna som kodar för ESBLs (s.k. bla-gener) ligger på plasmider, som replikerar och sprider de replikerade plasmidkopiorna självständigt. Plasmider replikeras som s.k. replikon. Plasmider med samma replikonvariant tillhör samma plasmidfamilj. Syftet med detta arbete var att detektera plasmidfamiljer som bär bla-gener i E. coli och K. pneumoniae isolerade från kliniska prov (n = 6) och miljöprov (n = 22) från Helge Å. Plasmidfamiljernas prevalens undersöktes, liksom sambandet mellan plasmidfamiljer och bla-gener. Plasmidfamiljerna detekterades med ett PBRT-kit (PCR Based Replicon Typing), ett multiplext PCR-kit som detekterade 30 replikon varav 27 replikon som representerar de 27 plasmidfamiljer som finns i Enterobacteriaceae och tre nya replikon. Plasmidfamiljen IncF var vanligast förekommande i båda arter i både kliniska isolat och miljöisolat. IncF verkade förekomma för alla undersökta typer av ESBL, men det var generellt svårt att förknippa en bla-gen med en plasmidfamilj, eftersom de flesta isolaten bar flera bla-gener och flera plasmidfamiljer.
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Filho, JoÃo Garcia Alves. « Cloning, sequencing and partial characterization of Vatairea Macrocarpa lectin related genes ». Universidade Federal do CearÃ, 2008. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=8149.
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Conselho Nacional de Desenvolvimento CientÃfico e TecnolÃgicoNo presente trabalho à feita a descriÃÃo de trÃs genes distintos que codificam lectinas ou proteÃnas relacionadas à lectina de Vatairea macrocarpa. As sequÃncias foram obtidas pela amplificaÃÃo de DNA genÃmico e cDNA de folhas utilizando primers semi-degenerados construÃdos a partir da informaÃÃo da sequÃncia de aminoÃcidos da lectina VML depositada no GenBank. O resultado do sequenciamento revelou a presenÃa de trÃs contigs. O contig1 corresponde à lectina VML desde que se assuma que a lectina depositada VML contenha heterogeneidades ou ambiguidades decorrentes na degradaÃÃo de Edman. A traduÃÃo dos contigs 2 e 3 mostram identidade de sequÃncia de 77% quando comparadas com VML. As sequÃncias, apesar de apresentar regiÃes conservadas, mostram diferenÃas de aminoÃcidos nos sÃtios de N-glicosilaÃÃo, sÃtios de ligaÃÃo a carboidrato e metais alÃm da presenÃa de resÃduos de cisteÃna sugerindo que tais proteÃnas podem ter outras atividades biolÃgicas. A anÃlise da sequÃncia obtida pelo 3â RACE se mostrou complementar ao contig3. Sendo assim, a sequÃncia hÃbrida contig3/contigA possui 2 resÃduos de cisteÃna alÃm de revelar diferenÃas de aminoÃcidos na regiÃo C-terminal quando alinhada com outras lectinas de leguminosas. AnÃlises filogenÃticas revelaram que os contigs observados formam um grupo monofiletico e tem alta similaridade com as lectinas de Sohora japonica e Robinia pseudoacacia, alÃm da proteÃna relacionada à lectina de Cladrastis lutea.
In this paper is made a description of three distinct genes that encode Vatairea macrocarpa lectin and related proteins. The sequences were obtained by amplification of genomic DNA and cDNA of leaves using semi - degenerate primers constructed from the information of the amino acid sequence of VML lectin deposited in GenBank. The result of sequencing rev eals the presence of three different genes, called contig 1, 2 and 3 . The VML lectin corresponds to contig1 long as one assumes that the lectin contains heterogeneities deposited VML or ambiguities arising in the Edman degradation . The translation of cont igs 2 and 3 show sequence identity of 77% compared to VML. Sequences, despite having conserved regions show differences in amino acid N - glycosylation sites, carbohydrate binding sites and metals and the presence of cysteine residues suggests that these pro teins may have other biological activities . The analysis of the sequence obtained by 3 'RACE proved complementary to contig3. Thus, the sequence contig3/contigA hybrid has two cysteine residues in addition to revealing differences in amino acid C - terminal region when aligned with other legume lectins. Phylogenetic analysis revealed that the observed contigs form a monophyletic group and has high similarity with lectins from Robinia pseudoacacia Sohora japonica and, in addition to the lectin - related protein Cladrastis lutea .
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Alves, Filho João Garcia. « Clonagem, sequenciamento e caracterização parcial dos genes relacionados à lectina de Vatairea macrocarpa ». reponame:Repositório Institucional da UFC, 2008. http://www.repositorio.ufc.br/handle/riufc/18177.
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ALVES FILHO, João Garcia. Clonagem, sequenciamento e caracterização parcial dos genes relacionados à lectina de Vatairea macrocarpa. 2008. 81 f. Dissertação (Mestrado)-Universidade Federal do Ceará, Fortaleza-CE, 2008.Submitted by Eric Santiago (erichhcl@gmail.com) on 2016-05-25T14:10:53Z No. of bitstreams: 1 2008_dis_jgalvesfilho.pdf: 1626131 bytes, checksum: fbd1ed851edb7139baaf9677e39e516a (MD5)
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In this paper is made a description of three distinct genes that encode Vatairea macrocarpa lectin and related proteins. The sequences were obtained by amplification of genomic DNA and cDNA of leaves using semi - degenerate primers constructed from the information of the amino acid sequence of VML lectin deposited in GenBank. The result of sequencing rev eals the presence of three different genes, called contig 1, 2 and 3 . The VML lectin corresponds to contig1 long as one assumes that the lectin contains heterogeneities deposited VML or ambiguities arising in the Edman degradation . The translation of cont igs 2 and 3 show sequence identity of 77% compared to VML. Sequences, despite having conserved regions show differences in amino acid N - glycosylation sites, carbohydrate binding sites and metals and the presence of cysteine residues suggests that these pro teins may have other biological activities . The analysis of the sequence obtained by 3 'RACE proved complementary to contig3. Thus, the sequence contig3/contigA hybrid has two cysteine residues in addition to revealing differences in amino acid C - terminal region when aligned with other legume lectins. Phylogenetic analysis revealed that the observed contigs form a monophyletic group and has high similarity with lectins from Robinia pseudoacacia Sohora japonica and, in addition to the lectin - related protein Cladrastis lutea.
No presente trabalho é feita a descrição de três genes distintos que codificam lectinas ou proteínas relacionadas à lectina de Vatairea macrocarpa. As sequências foram obtidas pela amplificação de DNA genômico e cDNA de folhas utilizando primers semi-degenerados construídos a partir da informação da sequência de aminoácidos da lectina VML depositada no GenBank. O resultado do sequenciamento revelou a presença de três contigs. O contig1 corresponde à lectina VML desde que se assuma que a lectina depositada VML contenha heterogeneidades ou ambiguidades decorrentes na degradação de Edman. A tradução dos contigs 2 e 3 mostram identidade de sequência de 77% quando comparadas com VML. As sequências, apesar de apresentar regiões conservadas, mostram diferenças de aminoácidos nos sítios de N-glicosilação, sítios de ligação a carboidrato e metais além da presença de resíduos de cisteína sugerindo que tais proteínas podem ter outras atividades biológicas. A análise da sequência obtida pelo 3’ RACE se mostrou complementar ao contig3. Sendo assim, a sequência híbrida contig3/contigA possui 2 resíduos de cisteína além de revelar diferenças de aminoácidos na região C-terminal quando alinhada com outras lectinas de leguminosas. Análises filogenéticas revelaram que os contigs observados formam um grupo monofiletico e tem alta similaridade com as lectinas de Sohora japonica e Robinia pseudoacacia, além da proteína relacionada à lectina de Cladrastis lutea.
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Сhurbanov, Alexander Y., Tatiana M. Karafet, Igor V. Morozov, Valeriia Yu Mikhalskaia, Marina V. Zytsar, Alexander A. Bondar et Olga L. Posukh. « Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia) ». Public Library of Science, 2016. http://hdl.handle.net/10150/614680.
Texte intégralRésumé :
Hearing loss (HL) is one of the most common sensorineural disorders and several dozen genes contribute to its pathogenesis. Establishing a genetic diagnosis of HL is of great importance for clinical evaluation of deaf patients and for estimating recurrence risks for their families. Efforts to identify genes responsible for HL have been challenged by high genetic heterogeneity and different ethnic-specific prevalence of inherited deafness. Here we present the utility of whole exome sequencing (WES) for identifying candidate causal variants for previously unexplained nonsyndromic HL of seven patients from four unrelated Altaian families (the Altai Republic, South Siberia). The WES analysis revealed homozygous missense mutations in three genes associated with HL. Mutation c.2168A>G (SLC26A4) was found in one family, a novel mutation c.1111G>C (OTOF) was revealed in another family, and mutation c.5254G>A (RAI1) was found in two families. Sanger sequencing was applied for screening of identified variants in an ethnically diverse cohort of other patients with HL (n = 116) and in Altaian controls (n = 120). Identified variants were found only in patients of Altaian ethnicity (n = 93). Several lines of evidences support the association of homozygosity for discovered variants c.5254G>A (RAI1), c.1111C>G (OTOF), and c.2168A>G (SLC26A4) with HL in Altaian patients. Local prevalence of identified variants implies possible founder effect in significant number of HL cases in indigenous population of the Altai region. Notably, this is the first reported instance of patients with RAI1 missense mutation whose HL is not accompanied by specific traits typical for Smith-Magenis syndrome. Presumed association of RAI1 gene variant c.5254G>A with isolated HL needs to be proved by further experimental studies.
Livres sur le sujet "Genes families"
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Knowles, Jonathan. Cellulase families and their genes. New York : Elsevier, 1987.
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Hannigan, Emma. Designer genes. Dublin, Ireland : Poolbeg, 2009.
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Hannigan, Emma. Designer genes. Dublin, Ireland : Poolbeg, 2009.
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Michaels, Rune. Nobel genes. New York : Atheneum Books for Young Readers, 2010.
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Nobel genes. New York : Atheneum Books for Young Readers, 2010.
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Michaels, Rune. Nobel genes. New York : Atheneum Books for Young Readers, 2010.
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Dozens of cousins : Blue genes, horse thieves, and other relative surprises in your family tree. Berkeley : Ten Speed Press, 1999.
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King, Susan. Eating pomegranates : A memoir of mothers, daughters and genes. [Toronto] : Bond Street Books, 2009.
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International, Congress on Genes Gene Families and Isozymes (13th 2005 Shanghai China). Proceedings of the XIII International Congress on Genes, Gene Families, and Isozymes : Shanghai, China, September 17-21, 2005. Bologna : MEDIMOND, International Proceedings, 2003.
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Moffat, Bobbie Wells. Inherited genes : Including families ; Wells, Price, Sharpe, Alexander, McKnight, Wallace, Hoyl, Costner, Lattimore, Stockton, Peeler, Redwine, Carlock, Ray, Norman, Dodd, Hill, Halbert, Miller, Baty, Harris. Salem, MA : Higginson Book Co., 2000.
Trouver le texte intégralChapitres de livres sur le sujet "Genes families"
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Evans, Glen A. « Genes and Gene Families Related to Immunoglobulin Genes ». Dans Molecular Neurobiology, 225–57. Boston, MA : Springer US, 1987. http://dx.doi.org/10.1007/978-1-4615-7488-0_7.
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Wang, Ruijia, et Zhanjiang Liu. « Analysis of Duplicated Genes and Multi-Gene Families ». Dans Bioinformatics in Aquaculture, 98–109. Chichester, UK : John Wiley & Sons, Ltd, 2017. http://dx.doi.org/10.1002/9781118782392.ch6.
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Ouedraogo, Wend Yam Donald Davy, et Aida Ouangraoua. « Inferring Clusters of Orthologous and Paralogous Transcripts ». Dans Comparative Genomics, 19–34. Cham : Springer Nature Switzerland, 2023. http://dx.doi.org/10.1007/978-3-031-36911-7_2.
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AbstractThe alternative processing of eukaryote genes allows producing multiple distinct transcripts from a single gene, thereby contributing to the transcriptome diversity. Recent studies suggest that more than 90% of human genes are concerned, and the transcripts resulting from alternative processing are highly conserved between orthologous genes.In this paper, we first present a model to define orthology and paralogy relationships at the transcriptome level, then we present an algorithm to infer clusters of orthologous and paralogous transcripts. Gene-level homology relationships are used to define different types of homology relationships between transcripts and a Reciprocal Best Hits approach is used to infer clusters of isoorthologous and recent paralogous transcripts.We applied the method to transcripts of gene families from the Ensembl-Compara database. The results are agreeing with those from previous studies comparing orthologous gene transcripts. The results also provide evidence that searching for conserved transcripts beyond orthologous genes will likely yield valuable information. The results obtained on the Ensembl-Compara gene families are available at https://github.com/UdeS-CoBIUS/TranscriptOrthology. Supplementary material can be found at https://doi.org/10.5281/zenodo.7750949.
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Nordqvist, Petra, et Carol Smart. « Proper Families ? Cultural Expectations and Donor Conception ». Dans Relative Strangers : Family Life, Genes and Donor Conception, 11–28. London : Palgrave Macmillan UK, 2014. http://dx.doi.org/10.1057/9781137297648_2.
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Agostini, Federico, Pilar Hernandez et Sergio Gálvez. « EasyBio : A Bioinformatics Web Platform to Analyze Families of Genes ». Dans Advances in Intelligent Systems and Computing, 210–19. Cham : Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-68285-9_21.
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Reinprecht, Yarmilla, Gregory E. Perry et K. Peter Pauls. « A Comparison of Phenylpropanoid Pathway Gene Families in Common Bean. Focus on P450 and C4H Genes ». Dans The Common Bean Genome, 219–61. Cham : Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-63526-2_11.
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Easton, Douglas F. « From families to chromosomes : genetic linkage, and other methods for finding cancer-predisposition genes ». Dans Genetic Predisposition to Cancer, 16–39. Boston, MA : Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-4501-3_2.
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Sadiq, Alia, Nonhlanhla P. Khumalo et Ardeshir Bayat. « Genetics of Keloid Scarring ». Dans Textbook on Scar Management, 61–76. Cham : Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-44766-3_8.
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AbstractKeloid disease is a benign fibro-proliferative reticular dermal tumor that develops in response to dysregulated cutaneous wound-healing process. The key alterations result in keloid formation have not been fully understood yet.Extensive literature review suggests that there is a strong genetic predisposition for keloid formation as keloid cases have appeared in twins, families, Asian and African descendant ethnic groups predominantly. Thus, there have been several attempts to investigate the genetic variations that may act as contributing factors in keloid pathogenesis, but no single genetic cause has been identified so far. Gene expression studies have shown highly variable results in linkage analysis of keloid families and in keloid fibroblasts. These findings provide clues that keloids arise from heterogeneous genetic events in coordination with immune-related components for example, the Major Histocompatibility Complex genes, consequently that may contributing towards dermal fibrosis. In addition, it is likely that multiple genetic and epigenetic factors are responsible for the development of the disease pathology. In summary, keloid disease is a disorder in which the exact genetic contribution to pathogenesis is yet to be elucidated. Understanding the genetic basis of keloid disease would help to identify targeted therapies as well as accurately assess individual genetic susceptibility to keloids, in order to provide a more personalized approach to their management.
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Cook, Jackie. « Genes in Families ». Dans Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, 201–25. Elsevier, 2019. http://dx.doi.org/10.1016/b978-0-12-812537-3.00007-x.
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Cook, Jackie. « Genes in Families ». Dans Emery and Rimoin's Principles and Practice of Medical Genetics, 1–18. Elsevier, 2013. http://dx.doi.org/10.1016/b978-0-12-383834-6.00008-2.
Texte intégralActes de conférences sur le sujet "Genes families"
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de la Salle, C., M. J. Baas, L. Grunebaum, R. Gialeraki, T. Mandalaki et J.-P. Cazenave. « MOLECULAR ANALYSIS OF COAGULATION FACTOR VIII AND IX GENES BY DNA PROBES ». Dans XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643873.
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About 250 individuals belonging to 44 families with hemophilia A or B were studied in our laboratory. The detection of carriers was first established by pedigree analysis of each family . and coagulation and immunological assays of factor VIII or IX. The availability of specific probes for the molecular study of these two genes makes possible a diagnosis with certainty in the case of informative families. 25 families of hemophilia A were studied. For each person, blood was collected into EDTA and leucocyte DNA was extracted, digested by restriction endonucleases, electrophoresed in 0.9 % agarose gels and transferred to nitrocellulose filters by Southern blotting. Two probes were used for the analysis of factor VIII gene. The St 14 probe (J.L. Mandel) located on the q28 region of the X chromosome and closely linked to the gene, determines a restriction fragment length polymorphism (RFLP) when the DNA is digested by the enzyme TaqI. The p114-12 genomic probe (Genentech) corresponding to the exons 17 and 18 of the factor VIII gene, reveals a RFLP in the DNA digested by the enzyme BclI. 19 families -of hemophilia B were studied. A total factor IX cDNA probe was used for the screening of potential deletions in the case of hemophiliacs with circulating antibodies. A genomic probe containing the exons II, III and IV of factor IX was used to detect the TaqI RFLP. For the study of factor VIII gene, the extragenic probe St 14 gives a very high percentage of informativity (about 90 %) but recombination can occur between the probe and the gene. The p 114-12 probe, which is used to confirm the results given by the St 14 probe, gives about 20 % informativity. In our study, we were able to diagnose carrier state with certainty in 92 % of the families. For hemophilia B, the genomic probe gives about 40 % informativity. A large deletion of the region of the factor IX gene has been found in one family and remains to be mapped. In conclusion, carrier detection and prenatal diagnosis can be established with certainty by molecular studies in most cases of hemophilia A using the St 14 probe, with a 5 % risk of recombination when the BclI RFLP cannot confirm. This diagnosis is possible in about 40 % of the cases of hemophilia B.
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Ploos van Amstel, J. K., A. L. van der Zanden, P. H. Reitsma et R. M. Bertina. « RESTRICTION ANALYSIS AND SOUTHERN BLOTTING OF TOTAL HUMAN DNA REVEALS THE EXISTENCE OF MORE THAN ONE GENE HOMOLOGOUS WITH PROTEIN S cDNA ». Dans XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644639.
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A deficiency in protein S, the cofactor of activated protein C, is associated with an increased risk for the development of venous thrombosis. It is inherited as an autosomal dominant disorder. To improve the detection of heterozygotes in affected families, we have started to search for restriction fragment length polymorphism (RFLP) in the protein S gene. This study revealed the existence of two genes containing sequences homologous to protein S cDNA.Three non-overlapping fragments of clone pSUL5, which codes for the carboxy-terminal part of protein S and contains the complete 3' untranslated region, were isolated and used as probes in search for RFLP of the protein S gene.Surprisingly the non-overlapping probes shared more than one hybridizing band. The hybridization took place under stringent assay conditions.This observation is contradictory to the intron-exon organization of a gene and suggests the existence of two genes, containing sequences homologous with pSUL5. Both genes could be assigned to chromosome 3 by mapping through somatic cell hybrids. Whether two functional protein S genes are present in the human genome remains to be established.
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Guro, P., V. Safronova, A. Sazanova, I. Kuznetsova, A. Belimov, V. Yakubov, E. Chirak, A. Afonin, E. Andronov et I. Tikhonovich. « Rhizobial microsymbionts of the narrowly endemic Oxytropis species growing in Kamchatka possess a set of genes that are associated with T3SS and T6SS secretion systems and can affect the development of symbiosis ». Dans 2nd International Scientific Conference "Plants and Microbes : the Future of Biotechnology". PLAMIC2020 Organizing committee, 2020. http://dx.doi.org/10.28983/plamic2020.099.
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A collection of rhizobial strains isolated from root nodules of the narrowly endemic legume species Oxytropis erecta, O. anadyrensis, O. kamtschatica and O. pumilio growing on the Kamchatka Peninsula (Russian Federation) was obtained. Analysis of the 16S rRNA gene sequence showed a significant diversity of isolates belonging to the families Rhizobiaceae (Rhizobium), Phyllobacteriaceae (Mesorhizobium, Phyllobacterium) and Bradyrhizobiaceae (Bosea, Tardiphaga). Pairs of taxonomically different strains in various combinations were isolated from some nodules of Oxytropis plants. Plant nodulation assays showed that only strains belonging to the genus Mesorhizobium (M. jarvisii, M. loti and M. huakuii) could form nitrogen-fixing nodules. The nitrogen-fixing activity of the strains was more associated with the host plant than with the species of strains. The whole genome sequences analysis showed that the strains M. loti 582 and M. huakuii 583 possessed symbiotic genes necessary for the formation of effective symbiosis and grouped into Sym-clusters. In contrast, the strain T. robiniae 581 had only a reduced number of fix genes, while the strains Phyllobacterium sp. 628 and R. lusitanum 629 possesed only individual symbiotic genes, which obviously did not participate in the formation of nodules. It was also stated that the strains M. loti 582 and M. huakuii 583 had a significantly larger set of genes related to the secretion systems T3SS and T6SS that can affect the host specificity of strains, compared with 6 commercial strains used as reference. These two strains formed nodules of two types (typical elongated and atypical rounded) on Oxytropis plants. We suggest that a possible cause of the observed phenomenon is the availability of different nodulation strategies in these strains (dependent and independent of Nod-factors).
Thus, as a result of studying the collection of strains isolated from the narrow endemic species of Kamchatka Oxytropis, interesting objects were selected to study the functions of the T3SS and T6SS genes, and their role in the development of rhizobia-legume symbiosis. The prospects of using strains with gene systems for both symbiotic and non-symbiotic nodulation to enhance the efficiency of plant-microbe interactions by expanding the host specificity and increasing the efficiency of nodulation are discussed.
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Giannelli, B. F. « MOLECULAR GENETICS OF HAEMOPHILIA ». Dans XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643981.
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Haemophilia B, an X-linked recessive disease with an incidence of 1/30,000 newborn males, is due to defects in the gene for coagulation factor IX, which is on the long am of the X chromosome at band Xq27.1. This gene consists of approximately 34 Kb and contains 8 exons which specify a mRtfc of 2803 residues coding for a protein of 415 aa preceded by a prepro signal peptide of 46 aa. Coripanson of the functional domains of the factor IX protein with the exon structure of the gene supports the exon/protein domain hypothesis of gene evolution. The factor IX gene seems to be formed by a number of functionally and evolutionally independent modules. The signal peptide and the gla (γcarboxy-glutamic) region encoded in the first three exons are homologous to those of factor X, protein C and prothrombin. Thevfourth and fifth exons which code for the connecting peptide are homologous to one another and to the epidermal growth factor, a module that has been used in the construction of a great variety of proteins including different members of the coagulation and fibrinolytic pathways. The sixth exon encodes the activation peptide region, while the catalytic region of factor IX is coded by the seventh and eighth exon. This is at variance with other serine protease genes that have different exons for the segments containing the cardinal ami no-acids of the active centre (histidine, aspartic acid and serine).Natural selection acts against detrimental mutations of the factor IX gene and at each generation a proportion of haemophilia B genes is eliminated, as a significant number of patients does not reproduce. There appears to be no selective advantage to the heterozygote and therefore haemophilia B is maintained in the population by new mutations. Consequently, a significant proportion of patients should be born to non-carrier mothers, and unrelated patients should carry different gene defects, as recently verified by detailed analysis of individual haemophilia B genes.The defects of factor IX described so far comprise both point mutations and gene deletions. The latter affect either part or the whole of the gene and are often associated with the development of antibodies against therapeutically adninistered factor IX (the inhibitor complication). Since gene deletions may result in the complete absenceof factor IX synthesis or in the production of an extremely abnormal product, it has been suggested that mutationspreventing the synthesis of a factor IX gene product capable of inducing immune tolerance to normal factor IX is important in predisposing to the inhibitor complication.Among the point mutations described so far, those affecting the signal peptide are of particular interest. Substitutions of the arginine at positions -4 and -1 cause failure of propeptide cleavage. Thus they indicate that the propeptide consists of 18 aa an(lthat lts excision is necessary for factor IX function. It appears also that the propeptide contains a signal for γcarboxylation which has been conserved during the evolution of different γcarboxylated proteins.In spite of coagulant treatment, haemophilia B is a serious disease and one for which genetic counselling is required. Paramount for this is the detection of carriers and the diagnosis ofaffected male fetuses. DNA probes derived from the cloned factor IX gene have been used for this purpose. Carrier and first or second trimester prenatal diagnoses have been done using factors IX gene markers to follow the transmission of haemophilia B genes. Six sequence variations causing restriction fragment length polymorphisms (RFLP) in the factor IX gene have been detected and used as markers for such indirect diagnoses The efficiency of the above markers is reduced by linkage disequilibrium but, nevertheless, they offer definite carrier and nremtal diagnoses in 75-80% of the relatives of familial cases of haemophilia B.The indirect detection of gene defects is of modest help in the counselling of individuals from the families of isolated patients, but new methods for the direct detection of gene mutations promise better results in such families and also the attainment of % diagnostic success in relatives of familial cases.Finally the successful expression of recombinant factor IX genes in tissue culture and transgenic mammals raises hopes of therapeutic advances.
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« Phenotypic characteristics of tobacco plants harboring mutations in nicotine biosynthesis genes from PMT and QPT gene families ». Dans Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-108.
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Bernardi, F., G. Marchetti, F. Vannini, L. Felloni, F. Panicucci et F. Conconi. « SPORADISM INVESTIGATION AND CARRIER DETECTION IN HAEMOPHILIA A BY RFLP ANALYSIS ». Dans XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644011.
Texte intégralRésumé :
Restriction fragment lenght polymorphisms (RFLPs)analysis has been employed for carrier detection andfor sporadism study in Haemophilia A. Three RFLPs, one intragenic in FC8 (647/BcII) and two with close linkage to Haemophilia A at DXS52 (Stl4/Taql) and DXS15 (DX13/BgIII), were used.In 20 families 29 carrier status determinations havebeen performed.In order to investigate sporadicity and to estimate the sex ratio of mutation rates directely, 17 families with isolated cases of haemophilia A were studied.In eight out of the 17 families the RFLPsanalysis excluded the carrier status of the maternalgrandmothers.Since by hemostatic studies the eight mothers of the propositi were shown to be haemophilia carriers, the origin of the newly mutated genes was inferred from the RFLP patterns: six haemophilic genes derive from the normal maternal grandfathers and two from the maternal grandmothers.Possible recombinations between FVIII locus and the extragenic RFLPs loci have to be considered; however the intragenic Bell RFLP is informative in five out of the eight families and the DXl3 and Stl4 patterns are concordant.The data indicate a higher mutation rate in males than in females gametes as previously suggested, althought not unanimously, by segregation analysis and coagulation studies. The RFLP analysis in a large number of families with isolated cases of haemophilia isnecessary to define the precise ratio of sex mutation rate for this disease.Work supported by P.F. Ing. Gen. Basi Mol. Mai. Ered. Contratto CNR N 8400877.
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Bocharnikova, M. E., et D. A. Afonnikov. « DEVELOPMENT OF A COMPUTATIONAL PIPELINE TO SEARCH AND ANALYZE GENES OF MULTIDOMAIN PROTEIN FAMILIES ». Dans OpenBio-2023. ИПЦ НГУ, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-1.
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We propose the OrthoDom computational pipeline, which is aimed at searching for orthologous proteins taking into account their domain composition. We tested the systems accuracy and implemented it for phospholipase A2 analysis in flatworms.
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Lacerda, Elisângela de Paula Silveira, Rebeca Mota Goveia, Paula Francinete Faustino Silva, Thais Bonfim Teixeira et Ruffo de Freitas-Junior. « HEREDITARY BREAST AND OVARIAN CANCER PATIENTS HAVE A FAMILY HISTORY OF CANCER OUTSIDE THE SPECTRUM OF THE SYNDROME, MIMICKING LYNCH AND LI–FRAUMENI SYNDROMES ». Dans Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2030.
Texte intégralRésumé :
Patients with pathogenic variants (PV) in the BRCA1 and BRCA2 genes have hereditary breast and ovarian cancer syndrome (HBOC). Some patients with HBOC have a family history (FH) of different types of cancer not related to the syndrome. The objective of this study was to observe the FH profile of cancer in patients with HBOC syndrome. A total of 123 patients treated at the Advanced Breast Diagnostic Center (CORA) with clinical criteria suggestive of HBOC syndrome were selected according to the National Comprehensive Cancer Network (NCCN). The collection of 4 ml of blood was performed, which was subjected to DNA extraction and PV analysis in the BRCA1 and BRCA2 genes by next generation sequencing. The data were analyzed using the Sophia DDM and Ion Reporter software. The variants were considered to be pathogenic according to the ACMG criteria. It was found that among 123 patients analyzed, 19 had HBOC syndrome, of whom 5 were related. Thus, we had 16 families with HBOC syndrome. Among the 16 families, 14 (87.5%) had FH from cancers related to HBOC syndrome, 9 (56.25%) had FH from cancers not related to HBOC syndrome, and 1 (16.25%) did not have FH cancer. A total of 8 (50%) of families with HBOC also met the NCCN criteria for other hereditary cancer syndromes, 3 (18.75%) for Li–Fraumeni syndrome (LFS) and HBOC, 3 (18.75%) for Lynch syndrome (LS) and HBOC, and 2 (12.5%) for HBOC, LFS, and LS. The most common cancers observed outside the common spectrum of HBOC syndrome in families were stomach cancer (25%), intestine (18.75%), liver (18.75%), and skin (18.75%). These data suggest the importance of a complete assessment of FH in patients with HBOC syndrome to better understand its relationship with the predisposition to different types of cancer.
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Yang, Xiaohong (Rose), Laura Burke, Kevin Jacobs, Michael Cullen, Joseph Boland, Laurie Burdett, Michael Malasky et al. « Abstract 2553 : Characterization of rare germline variants in somatically mutated melanoma genes in melanoma-prone families. » Dans Proceedings : AACR 104th Annual Meeting 2013 ; Apr 6-10, 2013 ; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-2553.
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Reitsma, P. H., A. M. Riemens, R. M. Bertina et E. Briít. « PROMOTOR MUTATIONS IN A PATIENT WITH HAEMOPHILIA B LEYDEN ». Dans XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643870.
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Haemophilia B Leyden is characterized by low levels of factor IX antigen and activity before the age of 15, whereas after puberty factor IX levels rise at a rate of about 4-5% per year. To date such a genetic variant of factor IX synthesis has been reported in two (probably related) Dutch families, in a Greek and in an American family of Armenian descent. Laboratory and clinical investigations indicate that the factor IX protein is normal but that the regulation of factor IX synthesis has come under the control of the steroid hormone testosterone. We have started to investigate the factor IX gene in a patient from a Dutch family in an attempt to explain the aberrant regulation.Southern blotting revealed no gross deletions or insertions in the factor IX gene. Therefore the promotor region of the factor IX gene was cloned and subjected to a detailed restriction enzyme analysis. This also did not indicate that significant DNA deletions or insertions had occurred. Subsequently we established the nucleotide sequence of the DNA surrounding the first exon which encompassed about 600 basepairs of the promotor region. Two deviations from previously published sequence data were recorded. Firstly, an A T change was noted in the presumed "tata" box region 20 basepairs upstream from the start site of mRNA synthesis. Secondly, at position −423 a T C change was found which lies 13 basepairs upstream from a potential alternative "tata" box.The point mutation at position −20 might well explain the failure of gene expression during the prepuberal stage of the disease. Whether the same point mutation also leads to the testosterone effects or that a second sequence variation is a prerequisite for this phenomenon remains to be established from studies on the promotor region in representatives of the Greek and American families. Eventually the introduction of chaemeric genes, containing the various promotor regions, into testosterone responsive cells should delineate the promotor sequences responsible for the variations in factor IX gene expression.
Rapports d'organisations sur le sujet "Genes families"
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Isaacs, William B. Collection of Prostate Cancer Families and Mapping Additional Hereditary Prostate Cancer Genes (HPC2, HPC3,...). Fort Belvoir, VA : Defense Technical Information Center, octobre 2000. http://dx.doi.org/10.21236/ada393910.
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Isaacs, William B. Collection of Prostate Cancer Families and Mapping Additional Hereditary Prostate Cancer Genes (HPC2, HPC3..). Fort Belvoir, VA : Defense Technical Information Center, avril 2001. http://dx.doi.org/10.21236/ada398202.
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Isaacs, William B. Collection of Prostate Cancer Families and Mapping Additional Hereditary Prostate Cancer Genes (HPC2, HPC3,...). Fort Belvoir, VA : Defense Technical Information Center, avril 2003. http://dx.doi.org/10.21236/ada417342.
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Isaacs, William B. Collection of Prostate Cancer Families and Mapping Additional Hereditary Prostate Cancer Genes (HPC2, HPC3...). Fort Belvoir, VA : Defense Technical Information Center, octobre 1999. http://dx.doi.org/10.21236/ada391094.
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Goldgar, David E. Identification and Genetic Mapping of Genes for Hereditary Breast Cancer and Ovarian Cancer in Families Unlinked to BRCA1. Fort Belvoir, VA : Defense Technical Information Center, septembre 1995. http://dx.doi.org/10.21236/ada301314.
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Neuhausen, Susan L. Identification and Genetic Mapping of Genes for Hereditary Breast Cancer and Ovarian Cancer in Families Unlinked to BRCA1. Fort Belvoir, VA : Defense Technical Information Center, septembre 1999. http://dx.doi.org/10.21236/ada382834.
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Weller, Joel, Harris Lewin, Micha Ron et George Wiggans. Detection and Mapping of Genes Affecting Traits of Economic Importance in Dairy Cattle with the Aid of Molecular Genetic Markers. United States Department of Agriculture, décembre 1995. http://dx.doi.org/10.32747/1995.7613024.bard.
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Forty-seven poly-TG microsatellites were developed at the U of IL, and 11 genetic markers were developed at ARO, nine of which were poly-AGC microsatellites. Markers were typed on the reference families of CSIRO, Australia; GRANADA, Texas; and IRRF, Illinois, for chromosome assignment and linkage mapping. Nine North American al organizations contributed semen to the Dairy Bull DNA Repository (DBDR), which currently has 65,743 units from 3366 bulls. Semen was obtained for 31 out of 35 grandsires. Semen of 28 and 23 sons of two Israeli bulls was also collected. Eighteen grandsires were genotyped for 75 microsatellites. One thousand, three hundred and sixty-two sons with evaluation from 17 families were genotyped for 24 markers. Eleven thousand, six hundred and twenty sons genotypes were determined, of which 8,802 were informative. The genotype data was matched to the bulls' daughter yield deviations (DYD) for seven traits; milk, fat, and protein production; fat and protein percent; somatic cell concentration (SCS); and productive herd life. Seven loci had significant effects at p<0.05, but only two loci, TGLA263 and MGTG7, had significant effects at p<0.01, and the effect of TGLA263 on fat percentage was significant at p<0.0001. There was at least one significant effect for each of the seven traits analyzed.
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Crisosto, Carlos, Susan Lurie, Haya Friedman, Ebenezer Ogundiwin, Cameron Peace et George Manganaris. Biological Systems Approach to Developing Mealiness-free Peach and Nectarine Fruit. United States Department of Agriculture, 2007. http://dx.doi.org/10.32747/2007.7592650.bard.
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Peach and nectarine production worldwide is increasing; however consumption is flat or declining because of the inconsistent eating quality experienced by consumers. The main factor for this inconsistent quality is mealiness or woolliness, a form of chilling injury that develops following shipping periods in the global fruit market today. Our research groups have devised various postharvest methods to prolong storage life, including controlled atmosphere and delayed storage; however, these treatments only delay mealiness. Mealiness texture results from disruption of the normal ripening process involving disassembly of cell wall material, and creates a soft fruit texture that is dry and grainy instead of juicy and smooth. Solving this problem is a prerequisite for increasing the demand for fresh peach and nectarine. Two approaches were used to reveal genes and their associated biochemical processes that can confer resistance to mealiness or wooliness. At the Volcani Center, Israel, a nectarine cultivar and the peach cultivar (isogenetic materials) from which the nectarine cultivar spontaneously arose, and at the Kearney Agricultural Center of UC Davis, USA, a peach population that segregates for quantitative resistance to mealiness was used for dissecting the genetic components of mealiness development. During our project we have conducted research integrating the information from phenotypic, biochemical and gene expression studies, proposed possible candidate genes and SNPs-QTLs mapping that are involved in reducing peach mealiness susceptibility. Numerous genes related to ethylene biosynthesis and its signal transduction, cell wall structure and metabolism, stress response, different transcription factor families were detected as being differentially accumulated in the cold-treated samples of these sensitive and less sensitive genotypes. The ability to produce ethylene and keep active genes involved in ethylene signaling, GTP-binding protein, EIN-3 binding protein and an ethylene receptor and activation of ethyleneresponsive fruit ripening genes during cold storage provided greater resistance to CI. Interestingly, in the functional category of genes differentially expressed at harvest, less chilling sensitive cultivar had more genes in categories related to antioxidant and heat sock proteins/chaperones that may help fruit to adapt to low temperature stress. The specific objectives of the proposed research were to: characterize the phenotypes and cell wall components of the two resistant systems in response to mealiness- inducing conditions; identify commonalities and specific differences in cell wall proteins and the transcriptome that are associated with low mealiness incidence; integrate the information from phenotypic, biochemical, and gene expression studies to identify candidate genes that are involved in reducing mealiness susceptibility; locate these genes in the Prunus genome; and associate the genes with genomic regions conferring quantitative genetic variation for mealiness resistance. By doing this we will locate genetic markers for mealiness development, essential tools for selection of mealiness resistant peach lines with improved fruit storability and quality. In our research, QTLs have been located in our peach SNPs map, and proposed candidate genes obtained from the integrated result of phenotypic, biochemical and gene expression analysis are being identified in our QTLs as an approach searching for consistent assistant markers for peach breeding programs.
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Gal-On, Amit, Shou-Wei Ding, Victor P. Gaba et Harry S. Paris. role of RNA-dependent RNA polymerase 1 in plant virus defense. United States Department of Agriculture, janvier 2012. http://dx.doi.org/10.32747/2012.7597919.bard.
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Objectives: Our BARD proposal on the impact of RNA-dependent RNA polymerase 1 (RDR1) in plant defense against viruses was divided into four original objectives. 1. To examine whether a high level of dsRNA expression can stimulate RDR1 transcription independent of salicylic acid (SA) concentration. 2. To determine whether the high or low level of RDR1 transcript accumulation observed in virus resistant and susceptible cultivars is associated with viral resistance and susceptibility. 3. To define the biogenesis and function of RDR1-dependent endogenous siRNAs. 4. To understand why Cucumber mosaic virus (CMV) can overcome RDR1-dependent resistance. The objectives were slightly changed due to the unique finding that cucumber has four different RDR1 genes. Background to the topic: RDR1 is a key plant defense against viruses. RDR1 is induced by virus infection and produces viral and plant dsRNAs which are processed by DICERs to siRNAs. siRNAs guide specific viral and plant RNA cleavage or serve as primers for secondary amplification of viral-dsRNA by RDR. The proposal is based on our preliminary results that a. the association of siRNA and RDR1 accumulation with multiple virus resistance, and b. that virus infection induced the RDR1-dependent production of a new class of endogenous siRNAs. However, the precise mechanisms underlying RDR1 induction and siRNA biogenesis due to virus infection remain to be discovered in plants. Major conclusions, solutions and achievements: We found that in the cucurbit family (cucumber, melon, squash, watermelon) there are 3-4 RDR1 genes not documented in other plant families. This important finding required a change in the emphasis of our objectives. We characterized 4 RDR1s in cucumber and 3 in melon. We demonstrated that in cucumber RDR1b is apparently a new broad spectrum virus resistance gene, independent of SA. In melon RDR1b is truncated, and therefore is assumed to be the reason that melon is highly susceptible to many viruses. RDR1c is dramatically induced due to DNA and RNA virus infection, and inhibition of RDR1c expression led to increased virus accumulation which suggested its important on gene silencing/defense mechanism. We show that induction of antiviral RNAi in Arabidopsis is associated with production of a genetically distinct class of virus-activated siRNAs (vasiRNAs) by RNA dependent RNA polymerase-1 targeting hundreds of host genes for RNA silencing by Argonaute-2. Production of vasiRNAs is induced by viruses from two different super groups of RNA virus families, targeted for inhibition by CMV, and correlated with virus resistance independently of viral siRNAs. We propose that antiviral RNAi activate broad-spectrum antiviral activity via widespread silencing of host genes directed by vasiRNAs, in addition to specific antiviral defense Implications both scientific and agricultural: The RDR1b (resistance) gene can now be used as a transcription marker for broad virus resistance. The discovery of vasiRNAs expands the repertoire of siRNAs and suggests that the siRNA-processing activity of Dicer proteins may play a more important role in the regulation of plant and animal gene expression than is currently known. We assume that precise screening of the vasiRNA host targets will lead in the near future for identification of plant genes associate with virus diseases and perhaps other pathogens.
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Weller, Joel, Harris Lewin, Micha Ron, George Wiggans et Paul VanRaden. A Systematic Genome Search for Genes Affecting Economic Traits Dairy Cattle with the Aid of Genetic Markers. United States Department of Agriculture, avril 1999. http://dx.doi.org/10.32747/1999.7695836.bard.
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The objectives were to continue collection of semen for the US dairy bull DNA repository, to conduct a systematic search of the Holstein genome for economically significant economic trait loci (ETL), to develop and refine statistical techniques for the analysis of the data generated, and to confirm significant effects by genotyping daughters i Israel and additional US sons. One-thousand-seventy-six sons of eight US grandsires were genotyped for 174 microsatellites located on all 29 autosomes. ETL were detected for milk production traits on seven chromosomes. ETL for milk and fat yield and fat and protein percentage on BTA3 was mapped to between the markers BL41 and TGLA263. The 95% confidence interval for the ETL affecting fat percentage on BTA14 localized this ETL between the contromere and chromosome position 11 cM. This ETL was verified in the Israeli cattle population by genotyping an independent sample of cows from seven families. The radiation hybrid data for the centromeric region of BTA14 is defined by a single linkage group. Order of Type I genes within this region, CYC-FADK-TG-SQLE, is conserved between human and cattle. Thus, HSA8, the human homologue of BTA14, can be used to identify candidate genes for the ETL.