Relevant bibliographies by topics / Diseases - genetic mapping

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Diseases - genetic mapping'

Author: Grafiati
Published: 4 June 2021
Last updated: 17 February 2022

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Journal articles on the topic "Diseases - genetic mapping"

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Smith, M. J., and P. N. Goodfellow. "Gene mapping and genetic diseases." Current Opinion in Cell Biology 1, no. 3 (1989): 460–65. http://dx.doi.org/10.1016/0955-0674(89)90006-9.

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Mynett-Johnson, Lesley A., and Patrick McKeon. "The molecular genetics of affective disorders: An overview." Irish Journal of Psychological Medicine 13, no. 4 (1996): 155–61. http://dx.doi.org/10.1017/s0790966700004444.

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AbstractObjective: Genetic mapping, the method of comparing an inheritance pattern of a disease to that of a chromosomal region, has brought about a revolution in the field of human inherited diseases. Diseases which exhibit a more complex pattern of inheritance now afford the next challange in the application of genetic mapping to the field of human disease. This article aims to review the application of genetic mapping to affective disorders.Method: Review of literature concerning the molecular genetics of affective disorders.Findings: This article describes the evidence for a genetic role in affective disorders, reviews the research to date and describes the difficulties arising out of the complex nature of these disorders.Conclusions: Although progress to date in psychiatric genetics has been somewhat disappointing, the combined approach of using all the genetic tools currently available on large collections of affected individuals and families should enable the genetic basis of affective disorders to be identified.
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Afanasenko, Olga S., and Kapiton V. Novozhilov. "Problems of rational use of genetic resources of plants resistance to diseases." Ecological genetics 7, no. 2 (2009): 38–43. http://dx.doi.org/10.17816/ecogen7238-43.

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The decision of a complex problem of rational use of plants genetic resources of resistance to diseases is based on principles of maintenance of a genetic diversity of resistance. The development of methodology of grain crops breeding with durable resistance to diseases is based on knowledge of evolutionary potential of most harmful pathogens and genetics of host-pathogen interactions. For molecular mapping of genes determined barley resistance to net blotch, spot blotch and scald double haploid barley populations were developed. Molecular mapping of genomes both plants and pathogens will promote the development of DNa- technologies in plant breeding.
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Suarez-Pajes, Eva, Ana Díaz-de Usera, Itahisa Marcelino-Rodríguez, Beatriz Guillen-Guio, and Carlos Flores. "Genetic Ancestry Inference and Its Application for the Genetic Mapping of Human Diseases." International Journal of Molecular Sciences 22, no. 13 (2021): 6962. http://dx.doi.org/10.3390/ijms22136962.

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Admixed populations arise when two or more ancestral populations interbreed. As a result of this admixture, the genome of admixed populations is defined by tracts of variable size inherited from these parental groups and has particular genetic features that provide valuable information about their demographic history. Diverse methods can be used to derive the ancestry apportionment of admixed individuals, and such inferences can be leveraged for the discovery of genetic loci associated with diseases and traits, therefore having important biomedical implications. In this review article, we summarize the most common methods of global and local genetic ancestry estimation and discuss the use of admixture mapping studies in human diseases.
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Ommen, G. J. B. van, and P. L. Pearson. "Long-range mapping in the research and diagnosis of genetic disease." Genome 31, no. 2 (1989): 730–36. http://dx.doi.org/10.1139/g89-131.

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This paper reviews current genetic and molecular biological methods that may be used in the so-called "reverse genetics" approach. These methods are the mapping, isolation, and study of the chromosomal DNA containing a previously unidentified gene responsible for a genetic disease, beginning with its chromosomal localization. In principle, the reverse genetics methodology follows the same path for different diseases studied. An overall outline of the steps to be undertaken is given and discussed. Several stages are illustrated with reference to current research in the fields of Duchenne muscular dystrophy, Huntington's disease, and polycystic kidney disease.Key words: human genetic disease, Duchenne muscular dystrophy, Huntington disease, polycystic kidney disease, reverse genetics.
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Casals, Ferran, Youssef Idaghdour, Julie Hussin, and Philip Awadalla. "Next-generation sequencing approaches for genetic mapping of complex diseases." Journal of Neuroimmunology 248, no. 1-2 (2012): 10–22. http://dx.doi.org/10.1016/j.jneuroim.2011.12.017.

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Bulayeva, Kazima B., Suzanne M. Leal, Tatiana A. Pavlova, et al. "Mapping genes of complex psychiatric diseases in Daghestan genetic isolates." American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 132B, no. 1 (2004): 76–84. http://dx.doi.org/10.1002/ajmg.b.30073.

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Houwing-Duistermaat, Jeanine J., and Robert C. Elston. "Linkage Disequilibrium Mapping of Complex Genetic Diseases Using Multiallelic Markers." Genetic Epidemiology 21, S1 (2001): S576—S581. http://dx.doi.org/10.1002/gepi.2001.21.s1.s576.

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Shulman, Eldad David, and Ran Elkon. "Genetic mapping of developmental trajectories for complex traits and diseases." Computational and Structural Biotechnology Journal 19 (2021): 3458–69. http://dx.doi.org/10.1016/j.csbj.2021.05.055.

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Dominiczak, AF, and K. Lindpaintner. "Genetics of Hypertension: A Current Appraisal." Physiology 9, no. 6 (1994): 246–51. http://dx.doi.org/10.1152/physiologyonline.1994.9.6.246.

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Recent advances in molecular genetics have made it possible to approach the study of complex polygenic multifactorial diseases such as hypertension. Two major approaches, the candidate gene and genetic mapping, have been used to investigate models of genetic hypertension in the rat.
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Dissertations / Theses on the topic "Diseases - genetic mapping"

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Einarsdottir, Elisabet. "Mapping genetic diseases in northern Sweden." Doctoral thesis, Umeå universitet, Medicinsk biovetenskap, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-499.

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The population of northern Sweden has previously been shown to be well suited for the mapping of monogenic diseases. In this thesis we have tested the hypothesis that this population could also be used for efficient identification of risk genes for common diseases. In Paper I we have hypothesised that despite the admixture of Swedish, Finnish and Sami, the northern Swedish population consists of sub-populations geographically restricted by the main river valleys running through the region. This geographic isolation, in combination with founder effects and genetic drift, could represent a unique resource for genetic studies. On the other hand, it also underlines the importance of accounting for this e.g. in genetic association studies. To test this hypothesis, we studied the patterns of marriage within and between river valley regions and compared allelic frequencies of genetic markers between these regions. The tendency to find a spouse and live in the river valley where one was born is strong, and allelic frequencies of genetic markers vary significantly between adjacent regions. These data support our hypothesis that the river valleys are home to distinct sub-populations and that this is likely to affect mapping of genetic diseases in these populations. In Paper II, we tested the applicability of the population in mapping HSAN V, a monogenic disease. This disease was identified in only three consanguineous individuals suffering from a severe loss of deep pain perception and an impaired perception of heat. A genome-wide scan combined with sequencing of candidate genes resulted in the identification of a causative point mutation in the nerve growth factor beta (NGFB) gene. In Paper III, a large family with multiple members affected by familial forms of type 1 diabetes mellitus (T1DM) and autoimmune thyroiditis (AITD) was studied. This syndrome was mapped to the IDDM12 region on 2q33, giving positive lodscores when conditioning on HLA haplotype. The linkage to HLA and to the IDDM12 region thus confirmed previous reports of linkage and/or association of T1DM and AITD to these loci and provided evidence that the same genetic factors may be mediating these diseases. This also supported the feasibility of mapping complex diseases in northern Sweden by the use of familial forms of these diseases. In Paper IV, we applied the same approach to study type 2 diabetes mellitus (T2DM). A non-parametric genome-wide scan was carried out on a family material from northern Sweden, and linkage was found to the calpain-10 locus, a previously described T2DM-susceptibility gene on 2q37. Together, these findings demonstrate that selecting for familial forms of even complex diseases, and choosing families from the same geographical region can efficiently reduce the genetic heterogeneity of the disease and facilitate the identification of risk genes for the disease.
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Einarsdóttir, Elísabet. "Mapping genetic diseases in northern Sweden." Umeå : Department of Medical Biosciences, Umeå University, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-499.

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Guo, Youling, and 郭友玲. "Genetic and genomic mapping of common diseases." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B50533861.

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 Genome-wide mapping of susceptibility genes was conducted in two complex disorders of hypertension and epilepsy, allowing the dissection of the genetic architecture of these common diseases and related quantitative traits. The study performed comprehensive genetic analyses in a genome-wide scale, using different structure of data – sib-pairs and case-control samples. To identify genes influencing hypertension and blood pressure, a combined linkage and association study was conducted using over half a million SNPs genotyped in 328 siblings. Regions of significant linkage were identified for blood pressure traits on chromosomes 2q22.3 and 5p13.2, respectively. Further family-based association analysis of the linkage peak on chromosome 5 yielded a significant association (rs1605685, P < 7  10-5) for hypertension. One candidate gene, PDC, was replicated in the family-based association tests. A two-stage genome-wide association study (GWAS) was performed in a total of 1,087 cases and 3,444 controls, to identify common susceptibility variants of epilepsy in Chinese. The combined analysis identified two association signals in CAMSAP1L1, rs2292096 [G] (P=1.0×10-8, OR =0.63) and rs6660197 [T] (P=9.9×10-7, OR=0.69), which are highly correlated, achieving genome-wide significance. One SNP (rs9390754, P = 1.7 × 10-5) in GRIK2 was refined as a previously-implicated association. In addition to SNPs, the assessment of CNVs in GWAS was performed, which could provide valuable clues to discover genes contributing to the heritability of epilepsy. A genome-wide scan for epilepsy through the use of DNA pooling also provides an alternative approach to reducing the substantial cost and thus increase efficiency in large-scale genetic association studies. The genome-wide mapping studies in families and unrelated individuals are complementary and together offer a comprehensive catalog of common variations and structural variants implicated for both quantitative and qualitative traits.<br>published_or_final_version<br>Psychiatry<br>Doctoral<br>Doctor of Philosophy
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O'Connell, Jeffrey R. "Algorithms for linkage analysis, error detection and haplotyping in pedigrees." Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325622.

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Prokunina, Ludmila. "Strategies for Identification of Susceptibility Genes in Complex Autoimmune Diseases." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2004. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4138.

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Standing, A. S. I. "Genetic mapping for the discovery of novel genes causing autoinflammatory diseases." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1417187/.

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The autoinflammatory syndromes are an emerging group of diseases, some with defined genetic cause, characterised by seemingly unprovoked inflammation which derives from a disruption of innate immunity. Novel as yet undefined syndromes are increasingly recognised in consanguineous families who may have normal parents and both affected and unaffected offspring. This type of family is ideal for genetic mapping as both copies of the (presumed recessive) disease causing alleles are likely to have originated in a recent shared common ancestor, and may be linked with markers which will be homozygous in the affected children. In this thesis affected and unaffected offspring and parents in three first-cousin Pakistani families were genotyped with Illumina 610 SNP arrays. This data was used for homozygosity mapping and parametric multipoint linkage analysis. For the first family, a 5Mb region was identified from this mapping. Candidate genes were chosen by members of an expert panel and the exons of these genes were Sanger sequenced. DNA from the entire homozygous region linked to the disease locus (5Mb) was captured using a custom designed 385k array from Nimblegen and then resequenced using the Illumina Genome Analyser II, revealing over 50 coding change variants. These entered a filtering process involving: the selection of rare variants and screening of extended family members, ethnically matched controls and disease controls, and the exclusion of unlikely candidates. This ultimately identified two missense variants of interest in two genes in family A, a novel variant in MEFV the gene affected in Familial Mediterranean Fever, and a variant in TNF Receptor Associated Protein 1 gene TRAP1. The potential contribution of disrupting of the function of these genes to the pathogenesis was assessed using siRNA knockdown in HeLa and THP1 cells. Outcomes assessed include levels of reactive oxygen species (ROS), which are central to many inflammatory processes, and cytokine production. This suggested that TRAP1 may be involved through elevated ROS and TNFα secretion.
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Ramburan, Viresh Premraj. "Genetic mapping of adult plant stripe rust resistance in the wheat cultivar Kariega." Thesis, Stellenbosch : Stellenbosch University, 2003. http://hdl.handle.net/10019.1/53438.

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Thesis (PhD (Agric)) -- Stellenbosch University, 2003.<br>ENGLISH ABSTRACT: Stripe (yellow) rust of wheat, caused by Puccinia striiformis f.sp. tritici, was first detected as a single introduction into South Africa in 1996. Two additional pathotypes have since been identified. Control of the disease may be achieved by use of genetic adult plant resistance (APR) as is present in the local cultivar 'Kariega'. The aim of this project was to understand the genetic basis of the APR in 'Kariega' to facilitate breeding of new varieties with genetic resistance to stripe rust. A partial linkage map of a 'Kariega X Avocet S' doubled haploid population covering all 21 wheat chromosomes was generated using 208 DNA markers, viz, 62 SSR, 133 AFLP, 3 RGA and 10 SRAP markers, and 4 alternative loci. The different marker techniques detected varying polymorphism, viz, overall SSR: 46%, AFLP: 7%, SRAP: 6% and RGA: 9%, and the markers produced low levels of missing data (4%) and segregation distortion (5%). A significant feature of the linkage map was the low polymorphism found in the D genome, viz, 19% of all mapped DNA markers, 11% of all AFLP markers and 30% of the total genome map distance. A region exhibiting significant segregation distortion was mapped to chromosome 4A and a seedling resistance gene for stem rust (Puccinia graminis f.sp . tritici), Sr26, mapped to chromosome 6A close to three SSR markers. The leaf tip necrosis gene, Ltn, which was also segregating in the population, mapped to chromosome 7D. Protocols for SRAP and RGA were optimised, and SRAP marker use in wheat genetic linkage studies is reported for the first time. The linkage map was used together with growth chamber and replicated field disease scores for QTL mapping. Chromosomes showing statistically significant QTL effects were then targeted with supplementary SSR markers for higher resolution mapping. The quality of disease resistance phenotypic data was confirmed by correlation analysis between the different scorers for reaction type (0.799±0.023) and for transformed percentage leaf area infected (0.942±0.007). Major QTL were consistently identified on chromosome 7D (explaining some 25-48% of the variation) and on chromosome 2B (21-46%) using transformed percentage leaf area infected and transformed reaction type scores (early and final) with interval mapping and modified interval mapping techniques. Both chromosomal regions have previously been identified in other studies and the 7D QTL is thought likely to be the previously mapped APR gene Yr 18. Minor QTL were identified on chromosomes lA and 4A with the QTL on 4A being more prominent at the early field scoring for both score types. A QTL evidently originating from 'Avocet S' was detected under growth chamber conditions but was not detected in the field, suggesting genotype-environment interaction and highlighting the need for modifications of growth chamber conditions to better simulate conditions in the field. The genetic basis of the APR to stripe rust exhibited by 'Kariega' was established by mapping of QTL controlling this trait. The linkage map constructed will be a valuable resource for future genetic studies and provides a facility for mapping other polymorphic traits in the parents of this population with a considerable saving in costs.<br>AFRIKAANSE OPSOMMING: Streep of geelroes van koring word veroorsaak deur Puccinia striiformis f. sp tritici, en is die eerste keer in 1996 in Suid-Afrika na introduksie van 'n enkele patotipe waargeneem. Twee verdere patotipes is sedertdien in Suid-Afrika gei"dentifiseer. Beheer van die siekte word veral moontlik gemaak deur die gebruik van genetiese volwasseplantweerstand soos gei"dentifiseer in die plaaslike kultivar 'Kariega'. Die doel van hierdie studie was om die genetiese grondslag van die streeproesweerstand te ontrafel ten einde die teling van nuwe bestande kultivars moontlik te maak. 'n Verdubbelde haplo1ede populasie uit die kruising 'Kariega X Avocet S' is aangewend om 'n gedeeltelike koppelingskaart vir die volle stel van 21 koring chromosome saam te stel. Die kaart het uit 208 DNA merkers, nl., 62 SSR, 133 AFLP, 3 RGA, 10 SRAP merkers en 4 ander lokusse bestaan. Totale polimorfisme wat deur die verskillende merkersisteme opgespoor is, was as volg: SSR: 46%, RGA: 9%, AFLP: 7% en SRAP: 6%. Die mate van ontbrekende data was gering (4%) asook die mate van segregasie distorsie (5%) van 'n enkele geval wat op chromosoom 4A gekarteer is. 'n Prominente kenmerk van die koppelingskaart is die relatiewe gebrek aan polimorfiese merkers op die D-genoom, nl., slegs 19% van alle DNA merkers en 11% van alle AFLP merkers wat slegs 30% van die totale genoom kaartafstand bestaan het. Die stamroes (Puccinia graminis f. sp. tritici) saailingweerstandsgeen, Sr26, karteer op chromosoom 6A naby drie SSR merkers. Die geen vir blaartipnekrose, Ltn, karteer op chromosoom 7D. Protokolle vir SRAP en RGA merkers is ge-optimiseer en gebruik van SRAP merkers in koppelings-analise word vir die eerste keer in koring gerapporteer. Die koppelingskaart is in kombinasie met groeikamerdata en gerepliseerde veldproefdata gebruik om die gene (QTL) vir volwasseplant streeproesweerstand te karteer. Chromosome met statisties betekenisvolle QTL is met aanvullende SSR merkers geteiken om die resolusie van kartering verder te verhoog. Die kwaliteit van fenotipiese data, soos in die proewe aangeteken, is bevestig deur korrelasies te bereken tussen lesings geneem deur onafhanklike plantpataloe (0.799 ± 0.023 vir reaksietipe en 0.942 ± 0.007 vir getransformeerde persentasie blaaroppervlakte besmet). Hoofeffek QTL vir die twee maatstawwe van weerstand is deur middel van die metodes van interval QTL kartering en gemodifiseerde interval QTL kartering konsekwent op chromosome 7D (25-48% van variasie verklaar) en 2B (21-46% van variasie verklaar) ge"identifiseer. In vorige studies is aangetoon dat beide chromosome 7D en 2B QTL vir volwasseplant streeproesweerstand dra. Die 7D QTL is waarskynlik die weerstandsgeen, Yr 18. QTL met klein effekte op weerstand is op chromosome lA en 4A ge"identifiseer. Die effek van laasgenoemde geen was meer prominent in die velddata in die vroee datum van weerstandsbeoordeling. Een QTL, afkomstig van 'Avocet S', is slegs onder groeikamertoestande identifiseerbaar. Dit dui op moontlike genotipe-omgewing wisselwerking en beklemtoon die noodsaaklikheid om aanpassings te maak in groeikamertoestande vir beter simulasie van veldproeftoestande. Die genetiese grondslag van volwasseplantweerstand teen streeproes in die kultivar 'Kariega' is deur QTL kartering bepaal. Die 'Kariega X Avocet S' koppelingskaart kan as 'n waardevolle basis dien vir toekomstige genetiese ontledings van ander polimorfiese kenmerke in die populasie.
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Bell, Martyn V. "A physical analysis of the fragile X (FRAXA) region in man." Thesis, University of Oxford, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302861.

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Schramm, Heather Elizabeth. "Development of mapping by admixture linkage disequilibrium for understanding human complex genetic diseases /." For electronic version search Digital dissertations database. Restricted to UC campuses. Access is free to UC campus dissertations, 2003. http://uclibs.org/PID/11984.

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Bierman, Anandi. "Mapping and survey sequencing of Dn resistance genes in Triticum aestivum L." Thesis, Stellenbosch : Stellenbosch University, 2015. http://hdl.handle.net/10019.1/96912.

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Thesis (PhD)--Stellenbosch University, 2015<br>ENGLISH ABSTRACT : Diuraphis noxia Kurdjumov (Russian Wheat Aphid; RWA) is a pest of wheat and barley that has spread from its home range in the fertile crescent to most wheat producing countries except Australia. Since its first introduction to South Africa and the USA in the late 20th century, breeding programs for wheat phenotypes resistant to the aphid were put in place. Conventional breeding practices rely on phenotypic screening to verify traits carried by offspring and genetic tools such as marker assisted selection (MAS) have greatly aided this process in speed and accuracy. The size and complexity of the wheat genome, its allopolyploid nature and repetitive elements have, however, posed a challenge to studies on the genetics of this cereal crop. Many studies have focused on chromosome 3B which is the largest of the wheat chromosomes and easily separated from the redundant genomic background by techniques such as flow cytometry. The similarity in size of the remaining chromosomes however, limits the application of flow cytometry to their isolation. Databases such as Grain-Genes (http://wheat.pw.usda.gov/GG2/index.shtml) house marker data from various mapping studies for all wheat chromosomes and in 2014 the International Wheat Genome Sequencing Consortium (IWGSC) completed the draft genome sequence of wheat categorized by chromosome. Sources of resistance (Dn resistance genes) against RWA are located on chromosome 7D. but despite the marker and sequence data available currently, mapping studies specific for the Dn resistance genes are few. Additionally, sequence data available is derived from cultivars susceptible to RWA and is not comprehensively annotated and assembled in many cases. In this study, we demonstrate a novel, combined approach to isolate and characterize the Dn resistance genes through the use of a genetic map constructed from Amplified Fragment Length Polymorphism (AFLP), Expressed Sequence Tag (EST) and microsatellite markers and a physical map constructed from Next Generation Sequencing (NGS) data of ditelosomic chromosomes (7DS and 7DL) isolated by microdissection on the PALM microbeam system. A 122.8 cM genetic map was produced from 38 polymorphic AFLP markers and two ESTs with the microsatellite Xgwm111 as anchor to related genetic maps. Through comparison to maps available on GrainGenes the location of the Dn1 resistance gene was narrowed down to a deletion bin (7DS5-0.36-0.62) on the short arm of chromosome 7D with an AFLP marker (E-ACT/M-CTG_0270.84) mapping closely at 3.5 cM and two ESTs mapping at 15.3 cM and 15.9 cM from Dn1. Isolation of individual chromosome arms 7DS and 7DL using the PALM Microbeam system allowed sequencing of the chromosome without the redundancy of the remainder of the hexaploid genome. Through isolating the chromosome arms in this way, a >80-fold reduction in genome size was achieved as well as a major reduction in repetitive elements. Analysis of the sequencing data confirmed that 7DL is the physically shorter arm of the chromosome though it contains the majority of protein coding sequences.<br>AFRIKAANSE OPSOMMING : Diuraphis noxia Kurdjumov (Russiese koring-luis; RWA) is « pes wat op koring en gars voorkom. Die pes het vanaf sy tuiste in die midde Ooste na meeste koringproduserende lande behalwe Australië versprei. Sedert die eerste bekendstelling van RWA in Suid Afrika en die VSA in die vroeë 20ste eeu is teelprogramme ten gunste van koring lyne met weerstand teen RWA begin. Tradisionele teelprogramme maak op fisieise observasie van die fenotipe staat om te verifieer of plante in die nageslag die gewenste eienskap dra. Genetiese metodes soos merkerondersteunde seleksie (MAS) versnel hierdie selekteringsproses grootliks. Die grootte en kompleksiteit van die koring genoom asook die polyploïde en herhalende natuur daarvan is « groot hindernis vir genetiese studies van hierdie graangewas. Baie studies het op chromosoom 3B gefokus wat die grootste van die koring chromosome is en dus maklik vanaf die res van die oorbodige genomiese agtergond deur tegnieke soos vloeisitometrie geskei word. Die ooreenkoms in grootte tussen die res van die chromosome bemoeilik die toepassing van vloeisitometrie om hulle te isoleer. Databasisse soos GrainGenes (http://wheat.pw.usda.gov/GG2/index.shtml) bevat merker data vanaf verskeie karterings-studies vir al die chromosome en in 2014 het die "International Wheat Genome Sequencing Consortium"(IWGSC) die voorlopige basispaarvolgorde van die koring genoom bekendgestel, gekategoriseer volgens chromosoom. Weerstandsbronne (Dn weerstandsgene) teen RWA kom meestal op chromosoom 7D voor. Ten spyte van merker en basispaarvolgorde data tans beskikbaar is karterings-studies spesifiek tot die Dn gene skaars en basispaarvolgorde data is vanaf kultivars afkomstig wat nie weerstandbiedend teen RWA is nie en waarvan die annotasie en samestelling baie keer nie goed is nie. In hierdie studie demonstreer ons « nuwe, gekombineerde aanslag om die Dn weerstandsgene te isoleer en karakteriseer deur van « genetiese kaart opgestel met "Amplified Fragment Length Polymorphism"(AFLP), "Expressed Sequence Tag"(EST) en mikrosatelliet merkers asook « fisiese kaart saamgestel deur die volgende-generasiebasispaarvolgordebepaling van ditelosomiese chromosome (7DS en 7DL) geïsoleer deur mikrodisseksie met die "PALM Microbeam"sisteem gebruik te maak. « Genetiese kaart van 122.8 cM was met 38 polimorfiese AFLP merkers en twee EST merkers geskep. Die mikrosatelliet, Xgwm111, is ook ingesluit en het as anker vir verwante genetiese-kaarte gedien. Deur vergelyking met genetiese-kaarte op GrainGenes is die posisie van die Dn1 weerstandsgeen vernou na « delesie bin (7DS5-0.36-0.62) op die kort arm van chromosoom 7D met « AFLP merker (EACT/ M-CTG_0270.84) wat ongeveer 3.5 cM vanaf die geen karteer. Die twee EST merkers is 15.3 cM en 15.9 cM vanaf die geen gekarteer. Isolering van die individuele chromosoom arms, 7DS en 7DL, deur van die "PALM Microbeam"sisteem gebruik te maak het basispaarvolgordebepaling van die chromosoom toegelaat sonder die oortolligheid van die res van die hexaploïde genoom. Deur die chromosoom so te isoleer is « >80-maal verkleining in genoom grootte bereik insluitend « groot reduksie in herhalende elemente. Analise van die data vanaf basispaarvolgordebepaling het bevestig dat chromosoom 7D die fisiese kleiner chromosoom is maar dat dit die meerderheid van proteïn koderende basispaarvolgordes bevat.
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Books on the topic "Diseases - genetic mapping"

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S, Rajadhyaksha Medha, ed. New biology and genetic diseases. Oxford University Press, 1999.

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1939-, Read Andrew P., ed. Molecular basis of inherited disease. 2nd ed. IRL Press at Oxford University Press, 1992.

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Davies, K. E. Molecular basis of inherited disease. IRL Press, 1988.

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Mastro, Richard Giulio Del. The human genome: Mapping the X-chromosome and the molecular analysis of selected genetic diseases. University of Birmingham, 1991.

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E, Lindsten Jan, Pettersson Ulf, Nobelstiftelsen, and Alfred Nobel's Björkborn Foundation, eds. Etiology of human disease at the DNA level. Raven Press, 1991.

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1950-, Waldholz Michael, ed. Genome: The story of the most astonishing scientific adventure of our time--the attempt to map all the genes in the human body. Simon and Schuster, 1990.

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Bishop, Jerry E. Genome: The story of the most astonishing scientific adventure of our time--the attempt to map all the genes in the human body. Simon and Schuster, 1990.

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Bishop, Jerry E. Genome: The story of the most astonishing scientific adventure of our time, the attempt to map all the genes in the human body. Open Road Integrated Media, 2014.

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Wexler, Alice. Mapping fate: A memoir of family, risk, and genetic research. University of California Press, 1995.

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Mapping fate: A memoir of family, risk, and genetic research. Times Books, 1995.

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Book chapters on the topic "Diseases - genetic mapping"

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Fowler, Steven J., Larry A. Chinitz, and Silvia G. Priori. "Role of Mapping and Ablation in Genetic Diseases: Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia." In Cardiac Mapping. Wiley-Blackwell, 2012. http://dx.doi.org/10.1002/9781118481585.ch59.

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Bulayeva, Kazima, Oleg Bulayev, and Stephen Glatt. "Selection of Populations for Mapping Genes of Complex Diseases." In Genomic Architecture of Schizophrenia Across Diverse Genetic Isolates. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-31964-3_3.

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Collins, Andy. "Mapping Genes for Common Diseases: Statistical Planning, Power, Efficiency and Informatics." In Molecular Genetic Epidemiology — A Laboratory Perspective. Springer Berlin Heidelberg, 2002. http://dx.doi.org/10.1007/978-3-642-56207-5_1.

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Littink, Karin W., Anneke I. den Hollander, Frans P. M. Cremers, and Rob W. J. Collin. "The Power of Homozygosity Mapping: Discovery of New Genetic Defects in Patients with Retinal Dystrophy." In Retinal Degenerative Diseases. Springer US, 2011. http://dx.doi.org/10.1007/978-1-4614-0631-0_45.

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Ali, Jauhar, Madonna Dela Paz, and Christian John Robiso. "Advances in Two-Line Heterosis Breeding in Rice via the Temperature-Sensitive Genetic Male Sterility System." In Rice Improvement. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-66530-2_4.

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Abstract:
AbstractHybrid rice technology is a viable strategy to increase rice production and productivity, especially in countries with limited cultivable land for agriculture and irrigation water, along with costlier chemical inputs. The three-line hybrid rice technology adoption rate is slowing down because of restricted heterosis per se, the availability of better combining ability in cytoplasmic male sterile lines, lower hybrid seed reproducibility, and limited market acceptability of hybrids. Two-line heterosis breeding could overcome these shortcomings. However, the wide-scale adoption and use of two-line hybrid rice technology are possible through systematic research and breeding efforts to develop temperature-sensitive genetic male sterile (TGMS) lines with low (&lt;24 °C) critical sterility temperature point, which is discussed in this chapter. Research on the genetics, breeding, grain quality, and resistance to insect pests and diseases for TGMS line development and physiological characterization is also discussed. In addition, the identification and validation of natural sites for TGMS self-seed multiplication and hybrid rice seed production through GIS mapping and climatic data analytical tools are also tackled. The development of high-yielding two-line rice hybrids and improvement in hybrid rice seed reproducibility could help in their wide-scale adoption.
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Tsai, Siu Mui, L. E. A. Camargo, R. L. Boscariol, et al. "Genetic Linkage Mapping and Location of Genomic Regions Associated with Nodulation and Bacterial Diseases in Phaseolus vulgaris L." In Nitrogen Fixation: From Molecules to Crop Productivity. Springer Netherlands, 2000. http://dx.doi.org/10.1007/0-306-47615-0_170.

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Blank, R. D., G. R. Campbell, M. Pollak, and P. D’Eustachio. "Bayesian Multilocus Linkage Mapping." In Genetics of Immunological Diseases. Springer Berlin Heidelberg, 1988. http://dx.doi.org/10.1007/978-3-642-50059-6_4.

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Keats, Bronya. "Interference, Heterogeneity and Disease Gene Mapping." In Genetic Mapping and DNA Sequencing. Springer New York, 1996. http://dx.doi.org/10.1007/978-1-4612-0751-1_3.

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Wahlström, Jan, Rolf Axelsson, and Tonnie Johannesson. "Chromosome Aberrations as Tools for Gene Mapping." In Genetics of Neuropsychiatric Diseases. Macmillan Education UK, 1989. http://dx.doi.org/10.1007/978-1-349-10729-2_6.

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Brown, S. D. M., N. Brockdorff, J. S. Cavanna, et al. "The Long-Range Mapping of Mammalian Chromosomes." In Genetics of Immunological Diseases. Springer Berlin Heidelberg, 1988. http://dx.doi.org/10.1007/978-3-642-50059-6_1.

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Conference papers on the topic "Diseases - genetic mapping"

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Santos dos Anjos, Julio Cesar, Bruno Reckziegel Filho, Junior F. Barros, Raffael B. Schemmer, Claudio Geyer, and Ursula Matte. "Genetic Mapping of Diseases through Big Data Techniques." In 17th International Conference on Enterprise Information Systems. SCITEPRESS - Science and and Technology Publications, 2015. http://dx.doi.org/10.5220/0005365402790286.

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Oliveira, Jorge, Rute Pereira, Rosário Santos, and Mário Sousa. "Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases." In 8th International Conference on Bioinformatics Models, Methods and Algorithms. SCITEPRESS - Science and Technology Publications, 2017. http://dx.doi.org/10.5220/0006248502100216.

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Benway, C., P. Sakornsakolpat, J. Ross, B. D. Hobbs, M. H. Cho, and E. K. Silverman. "Genome-Wide Association Study of Parametric Response Mapping in the COPDGene Study Dissects Genetic Contributions to Emphysema and Functional Small Airway Disease." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a6091.

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