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Dissertations / Theses on the topic 'Human abnormalities'

Author: Grafiati

Published: 4 June 2021

Last updated: 29 July 2024

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1

Martini, Elena. "Chromosomal abnormalities in human gametes." Maastricht : Maastricht : UPM, Universitaire Pers Maastricht ; University Library, Maastricht University [Host], 1998. http://arno.unimaas.nl/show.cgi?fid=8529.

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2

Atia, Tarek A. "Investigation of human subtelomeric cytogenic abnormalities." Thesis, University of Nottingham, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.272765.

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3

Ben, Amor Hanene. "Chromosome abnormalities in preimplantation bovine embryos." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111790.

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Studies suggest that chromosomal abnormalities notably mosaicism consisting of normal and abnormal cells is a common feature observed in mammalian preimplantation embryos. The data on chromosome abnormalities in bovine embryos however, are limited. The principal aim of this study was to investigate chromosome abnormalities and their effect on the development of bovine embryos produced in vitro. 193 embryos were evaluated for chromosomal abnormalities, using dual fluorescent in situ hybridization (FISH) with developed DNA probes for X and Y chromosomes. Our results demonstrate that uniformly abnormal embryos were found mostly at the early cleavage stages, and embryos with extensive chromosome abnormalities were usually arrested by the morula stage. Chromosomal mosaicism was observed at the 2- cell stage and increased steadily with subsequent stages of development. By the blastocyst stage, chromosomal mosaicism was the main abnormality observed and affected 95% of the blastocysts. Most of the mosaic blastocysts comprised of diploid and tetraploid cells. In the second part, a detailed analysis of 121 day 7 and days 9-10 blastocysts, demonstrated that the proportion of polyploid cells in most of the morphologically good quality embryos was less than 15%, which was significantly lower than in poor quality embryos. [...]
II a ete suggere que des anomalies chromosomiques particulierement le mosaicism sont frequemment rencontres chez les embryons des bovins produit in vitro, cependant les donnees disponibles sont tres limitees. Le but principal de cette etude est d'evaluer les anomalies chromosomiques particulierement le mosaicism au different stades de developpement embryonnaire par FISH en utilisant des probes 'ADN pour les chromosomes X et Y. Nos resultats demontrent que des embryons uniformement anormales ont ete surtout trouves aux premiers stades de cleavage, temoignant que les embryons avec une vaste anomalie affectant la totalite des embryons sont souvent arretes au stade du morula. Le mosaicism chromosomique a ete rencontre dans tous les stades de developpement et il a augmente emarquablement pendant le developpement embryonnaire. Ainsi, au stade du blastocyst, le mosaicism chromosomique etait l'anomalie principale observee avec 95 % de blastocysts analyses devenant mosaiques. [...]

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4

Downie, Sarah Elizabeth. "Detection of chromosomes and chromosomal abnormalities in human sperm." Title page, contents and overview only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phd751.pdf.

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Bibliography: leaves 135-151. A study of chromosomal abnormalities and the localisation of chromosomes in human sperm, especially from men with TSD, using fluorescence in situ hybridization (FISH). The project entailed: 1. development of reliable FISH protocols, 2. determination of basline frequencies of aneuploidy, 3. analysis of chromosomal abnormalities in men with severe TSD and 4. assessment of the localisation of individual chromosomes within the sperm head.

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5

Heydenrych, Joan Ingrid. "Certain congenital anomalies : some psycho-social implications in adulthood." Master's thesis, University of Cape Town, 1988. http://hdl.handle.net/11427/17157.

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Bibliography: pages 195-202.
This study is an investigation of some psycho-social implications in adulthood of being born with a congenital anomaly. The congenital anomalies - oesophageal atresia, Hirschsprung's disease and high anorectal malformations are surgically corrected at birth, but can be associated with residual problems. These problems could put patients at risk for psycho-social maladjustment. The three anomaly groups were seen to represent varying degrees of severity. The oesophageal atresia respondents represented the no to mild disability/residual problems group. Those who had Hirschsprung's disease represented the moderate disability/residual problem group. The high anorectal malformation respondents' represented the severe disability/residual problem group. The research hypothesis is that the severity of residual problems and psycho-social functioning will be directly proportional to each other, i.e. the more severe the handicap, the poorer the psycho-social functioning. A research study was conducted on 38 adult patients whose congenital anomalies were surgically corrected at The Red Cross War Memorial Children's Hospital. The research methods used were a descriptive survey method and a case-study method. The former involved three self-administered questionnaires. Information obtained concerned demographic, socio-economic, family background, medical and psycho-social problem data. An in-depth case-study was conducted with one respondent from each anomaly group. Information was obtained concerning the effect that residual problems had had on various aspects of patients' lives. Data was analysed descriptively. The findings of the study supported the research hypothesis, the medical prognosis and on the whole agreed with the literature. Severity of residual problems was found to be directly related to psycho-social functioning. Patients with severe disability/residual problems were experiencing the most psycho-social problems, those who had moderate disability/residual problems were found to have some psycho-social disability/residual problems, whereas those with mild disability/residual problems were found to have few or no psycho-social problems. Self-esteem, depression, interpersonal relationships and restricted social functioning were the psycho-social aspects found to be most affected by residual problems. The study revealed gaps in both medical and social work services for these patients in terms of ongoing follow-up services. Recommendation to improve these services have been proposed.

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6

Clouston, Hazel J. "An investigation of chromosome abnormalities in the human blastocyst." Thesis, University of Newcastle Upon Tyne, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397361.

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7

James, Rowena Sarah. "Genomic imprinting and the aetiology of human chromosome abnormalities." Thesis, University of Southampton, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295874.

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8

Lahn, Bruce T. 1968. "The human Y chromosome : gene content and chromosomal abnormalities." Thesis, Massachusetts Institute of Technology, 1998. http://hdl.handle.net/1721.1/49655.

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9

Al, farawati Samer. "Analysis of chromosomal abnormalities in human oocytes and embryos." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:da17212b-2713-4e6e-846a-e71549d6eb2f.

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The chromosome constitution of human cleavage stage embryos has been extensively investi-gated using a variety of techniques, revealing high levels of aneuploidy and mosaicism. However, the final phase of preimplantation development, the blastocyst stage has received relatively little attention mostly because it is only recently that embryo culture has become sufficiently well optimised to reliabley generate blastocysts. One of the aims of this study was to examine blastocyst cytogenetics, characterising the extent and variety of aneuploidy and, where possible, determining the origin of the abnormalities detected. Both the frequency of aneuploidy and the incidence of mosaicism were significantly lower in the 52 embryos generated by 20 patients that had successfully undergone the first cellular differentiation, producing trophectoderm (TE) and inner cell mass (ICM). Valuable tools for the detailed chromosomal analysis of blastocysts, used in both research and clinical contexts, were comparative genomic hybridization (CGH) and array CGH (aCGH). However, validation of these methods, especially aCGH, was required in order to verify accuracy. A low error rate and a low misdiagnosis risk were demonstrated. The morphology of 1397 embryos at the cleavage and blastocyst stages from 229 patients was evaluated in relation to their chromosomal complement. The results obtained during this part of the project showed that, in general, there is little correlation between cleavage stage morphology and chromosome status. A weak link between morphology and aneuploidy, however, was found for embryos at the blastocyst stage. Chromosomally normal female embryos had a tendency to grow faster than male embryos at the cleavage stage and therefore tended to achieve superior morphological scores, whereas the trend was reversed at the blastocyst stage. Abnormal embryos carrying types of aneuploidy compatible with formation of a clinically recognised pregnancy had morphologies indistinguishable from those of euploid embryos. This study also aimed to utilise aCGH for the preimplantation genetic diagnosis (PGD) of imbal-ances due to structural chromosome rearrangements (e.g. translocations) in 39 carriers, a total of 139 embryos were assessed. The data obtained revealed that carriers of Robertsonian translocations are at increased risk of aneuploidy affecting additional chromosomes not involved the translocation, a phenomenon known as an interchromosomal effect (ICE). Finally, the clinical outcomes of 300 patients undergoing preimplantation genetic screening (PGS) using aCGH, for various different indications, were evaluated at both the cleavage (795 embryos) and blastocyst stages (1097 embryos). The pregnancy rate following cleavage stage biopsy was significantly lower than following blastocyst stage biopsy. The miscarriage rate was significantly reduced following PGS for patients with recurrent miscarriages. This work provided promising data supporting the clinical use of comprehensive chromosome analysis for the screening or diagnosis of preimplantation embryos and also yielded scientifically useful information concerning the frequency and nature of aneuploidy at the final stage of development before implantation.

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10

Li, Fang. "An analysis of 25,000 cases from a hospital in Guangdong birth defect monitoring network during 2000 to 2005." View the Table of Contents & Abstract, 2007. http://sunzi.lib.hku.hk/hkuto/record/B38478742.

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11

Conn, Clare Maria. "Molecular cytogenetic analysis of chromosome abnormalities in early human embryos." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.399168.

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12

Kuo, Hongqi. "Nuclear and chromosomal abnormalities in human preimplantation development in vitro." Thesis, King's College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.251676.

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13

Cork, Beverley Anne. "Cytokines and human endometrial function : abnormalities in recurrent miscarriage women." Thesis, Sheffield Hallam University, 2001. http://shura.shu.ac.uk/19669/.

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The human endometrium is the site of embryo implantation and is therefore responsible for providing a suitable environment for an embryo to grow and develop. This is achieved by the endometrium undergoing cyclical changes, under the control of steroid hormones. However, it is clear that steroid hormones are not the final effectors, but rather initiate a downstream cascade of molecular events through local autocrine and paracrine factors, such as cytokines. The role of cytokines in the human endometrium still remains to be determined, but they are thought to play an important role in the implantation process. This study has therefore focused on the expression of pro-inflammatory cytokines in the human endometrium and effects of these cytokines on endometrial function. Immunocytochemistry was used to determine the expression of leukaemia inhibitory factor (LIF), interleukin-6 (IL-6), interleukin-1alpha (IL-1alpha), interleukin-1beta (IL-1beta) and tumour necrosis factor alpha (TNFalpha) in the human endometrium of normal fertile women throughout the menstrual cycle. The results showed that staining intensity for LIF and IL-6 increased in epithelial cells at the time of implantation. IL-1alpha and IL-1beta remained relatively constant throughout the cycle, with a slight increase in epithelial IL-1B at the time of implantation. The expression of TNFalpha could not be determined. Staining for LIF, IL-6, IL-1alpha and IL-1beta was then repeated on endometrial sections from biopsies obtained from women who suffer recurrent miscarriage at the time of implantation and compared to the staining obtained in biopsies from normal fertile women. For all four cytokines, there were some biopsies from women who suffer recurrent miscarriage, where staining was significantly weaker than that seen in normal fertile women at the same time in the menstrual cycle. These results suggest that LIF, IL-6, IL-1alpha and IL-1beta may therefore be important for successful implantation and subsequently successful pregnancy outcome. Matrix metalloproteinases (MMPs) are postulated to be involved in the implantation process, as they are capable of digesting the components of the extracellular matrix. Recent studies have shown that cytokines may be involved in the regulation of MMPs in both the endometrium and the invading trophoblast cells. The effects of LIF, IL-6, IL-1beta and TNFalpha on endometrial MMP production in vitro were thereforeinvestigated. MMP-2 was produced by both cultured epithelial and stromal cells, MMP-9 was produced mainly by epithelial cells and MMP-7 was only produced by epithelial cells. Although LIF and IL-6 had no significant effect on endometrial MMP production, IL-1alpha and TNFalpha did alter MMP-2, MMP-9 and MMP-7 production from both epithelial and stromal cells. More recent studies have suggested the possible role of interleukin-11 (IL-11) in endometrial function, particularly decidualisation. Therefore the expression of both IL-11 and its receptor, IL-11R, was investigated in endometrial biopsies obtained from normal fertile women throughout the menstrual cycle. The results showed that both IL-11 and IL-11R were expressed throughout the menstrual cycle, predominantly by epithelial cells, however, stromal expression did increase slightly towards the end of the cycle. The effects of cytokines on IL-11 production by cultured endometrial cells were also investigated. IL-1alpha, TNFalpha and TGFbeta caused a significant increase in IL-11 production from both stromal and epithelial cells. Finally the effects of IL-11 on MMP-2, MMP-9, MMP-7, IL-1beta and TNFalpha produced by cultured endometrial cells were studied. No effect of IL-11 on MMP production was seen by either stromal or epithelial cells, but IL-11 did cause a concentration dependent decrease in TNFalpha production from cultured epithelial cells. The results have increased our knowledge on the expression and function of endometrial pro-inflammatory cytokines and suggested that although endometrial LIF and IL-6 expression is greatest at the time of implantation and is decreased in women who suffer recurrent miscarriage, IL-1 and TNFalpha have a greater effect on endometrial function. IL-11 is also expressed by the endometrium and is affected by other cytokines. Its positioning within the cytokine networks, which could control endometrial function, requires further study.

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14

Glassberg, Andrea E. "Genetic testing for susceptibility to breast and ovarian cancer : a case study of clinical decision-making in medical genetics /." Thesis, Connect to this title online; UW restricted, 1997. http://hdl.handle.net/1773/10308.

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15

Nancarrow, Julie. "Studies of fragile sites on human chromosome 16 /." Title page, abstract and contents only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phn1755.pdf.

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Thesis (Ph. D.)--University of Adelaide, Dept. of Cytogenetics and Molecular Genetics, 1998.
Copies of author's previously published articles inserted. Includes bibliographical references (leaves 194-222).

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16

Demczuk, Suzanne. "Genetic characterization of DiGeorge and related syndromes associated with 22q11.2 deletions." Thesis, McGill University, 1995. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=28726.

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DiGeorge syndrome (DGS) is a developmental defect associated with deletions in chromosomal region 22q11.2. Recently, other syndromes (Velo-Cardio-Facial syndrome, Conotruncal Anomaly Face syndrome, isolated conotruncal cardiopathy) with overlapping phenotypes have been found to be associated with deletions of a similar extent in this chromosomal region. All these syndromes have been grouped under the acronym CATCH 22 (Cardiac defect, Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcemia, chromosome 22q11.2 deletions). In order to characterize genetically this group of syndromes, we have searched for deletions in the 22q11.2 chromosomal region by fluorescence in situ hybridization (FISH). A set of 6 cosmid probes dispersed within the whole length of the DGS deleted region was used to screen 23 patients. A 22q11.2 deletion was observed in 96% of the patients studied. Furthermore, there does not seem to exist any correlation between the size of the deletion and the phenotype observed, since the majority of patients studied, although widely divergent in their clinical manifestation of DGS, appeared to present the same extent of deletion in this genomic region.
There appears to be a predominance of deletion-bearing mothers in familial CATCH 22 when published pedigrees are examined. Furthermore, our own familial cases and the sporadic cases where the parental origin of the deletion could be deduced using a chromosome 22 short arm heteromorphisms seem to confirm this tendency. Because we had isolated a CA-repeat locus mapping within the DGS deleted region, the parental origin of the deletion in sporadic DGS/VCFS cases was studied by assessing the inheritance pattern of this microsatellite marker. The deleted portion of chromosome 22 was of maternal origin in 16 out of 22 cases (72%). When cases of sporadic, familial and unbalanced translocation inheritance reported in the literature were pooled with these results, there appears to be a net tendency for the deletions to be of maternal origin in CATCH 22 (70 deletions of maternal origin, 21 of paternal origin, X$ sp2$ = 26.4, p $<$ 0.0001).
In order to identify the molecular defect underlying DGS, we embarked on a positional cloning approach. A detailed physical map of the 22q11.2 region was made using one- and two-color FISH on metaphases and G$ sb0$ interphase nuclei, and by hybridization to a chromosome 22 hybrid panel. This permitted delineation of a critical region, within which the breakpoint of a balanced translocation carrier affected with DGS was mapping. This breakpoint was cloned by the construction of cosmid contigs, and a novel gene mapped to this region was isolated. The gene potentially encodes an adhesion receptor, and is not interrupted by the balanced translocation breakpoint. Possible mechanisms through which this gene can be involved in the pathogenesis of DGS are presented.
This research project has contributed toward the understanding of the genetics of DGS and related syndromes. Furthermore, a candidate gene for the CATCH 22 syndromes has been isolated and further work will confirm whether it plays a major role in the pathogenesis of these syndromes.

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17

Deng, Wen. "Dynamics of chromosome instability in human cells undergoing immortalization." Click to view the E-thesis via HKUTO, 2005. http://sunzi.lib.hku.hk/hkuto/record/B31375972.

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18

Deng, Wen, and 鄧文. "Dynamics of chromosome instability in human cells undergoing immortalization." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B31375972.

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19

Abogrein, Abdulmawla. "Numerical chromosome abnormalities in human sperm and embryos : correlations and mechanisms." Thesis, University of Kent, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.498815.

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20

Stuart, Helen. "Urofacial syndrome : a genetic model to understand human urinary tract abnormalities." Thesis, University of Manchester, 2015. https://www.research.manchester.ac.uk/portal/en/theses/urofacial-syndrome-a-genetic-model-to-understand-human-urinary-tract-abnormalities(27ce034e-1efb-47cc-9ea4-611ebd926bbc).html.

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Urofacial syndrome (UFS; MIM# 236730) is a rare autosomal recessive condition characterised by urinary bladder and bowel voiding dysfunction with a pathognomonic abnormality of facial movement with expression. UFS can be caused by biallelic putative loss-of-function mutations in HPSE2, which encodes heparanase 2. Failure to discover HPSE2 mutations in all cases of UFS suggests genetic heterogeneity. The urinary tract features of UFS overlap those seen in the spectrum of non-syndromic non-neurogenic voiding dysfunction and vesicoureteric reflux (VUR). This overlap suggests there may be some aspects of pathogenesis in common. The project aimed to define the genotypic and phenotypic spectrum associated with mutations in HPSE2 by Sanger sequencing and multiplex ligation-dependent probe amplification (MPLA) in newly referred cases of UFS and making comparison to a review of mutations and phenotypes seen in the literature. This work discovered five further families with HPSE2 associated UFS increasing known mutations whilst, reinforced that this is an under-recognised condition and emphasised the previously under-reported feature of facial weakness. The failure to discover HPSE2 mutations in all cases referred provided further evidence of genetic heterogeneity. The project also aimed to discover further genes associated with UFS. Autozygosity mapping and whole exome sequencing was carried out in cases of UFS without mutations in HPSE2. This led to the recognition that UFS is also caused by biallelic putative loss-of-function mutations in LRIG2 encoding the leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2) protein in three families. Failure to identify LRIG2 mutations in all HPSE2 negative families suggests further genetic heterogeneity. To address the question of whether the pathogenesis of UFS overlaps more common conditions with a similar spectrum of urinary tract abnormalities I aimed to examine whether pathogenic variants in HPSE2 and LRIG2 were seen in these phenotypes. Unexpectedly this led to the discovering of further families affected by UFS but failed to show an association of variants in UFS genes with non-syndromic urinary tract abnormalities. However, variants of potential interest were discovered. As part of work toward understanding the pathogenesis of UFS and designing a model to test the pathogenesis of sequence variants expression studies in a Xenopus tropicalis hpse2 knock-down model of UFS were carried out. The knock-down model provided valuable insight in to the likely pathogenesis of UFS with evidence pointing towards a congenital peripheral neuropathy with failure of correct nerve path finding. Understanding the pathogenesis of UFS has the potential to direct further research in to therapeutic intervention.

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21

Thirunavukarasu, Prema P. (Prema Pooranam) 1974. "Studies on inhibin forms in normal and abnormal human pregnancy." Monash University, Dept. of Obstetrics and Gynaecology, 2001. http://arrow.monash.edu.au/hdl/1959.1/8484.

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22

Heritage, Mandy Leigh. "Identification and characterisation of the genetic defect that causes Alagille Syndrome : mutations in the Jagged1 gene /." [St. Lucia, Qld.], 2002. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe16914.pdf.

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23

Jayapaul, Muthu Kumaran. "Metabolic abnormalities in human subjects with variation in the Calpain 10 gene." Thesis, University of Newcastle upon Tyne, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.489334.

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24

Jones, Mark Philip. "A low frequency acoustic method for detecting abnormalities in the human thorax." Thesis, University of Southampton, 1996. https://eprints.soton.ac.uk/253034/.

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25

Hollway, Georgina. "The genetic basis of human craniosynostosis syndromes /." Title page, contents and summary only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phh7448.pdf.

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26

Barbour, Virginia. "Regulation of the human #alpha# globin genes by their chromatin context." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.244591.

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27

Senft, Jamie Riemann. "Characterization of a conserved chromosome breakpoint at 10q21.3 in human and 10B5.1 in mouse possible role in cancer /." Morgantown, W. Va. : [West Virginia University Libraries], 2004. https://etd.wvu.edu/etd/controller.jsp?moduleName=documentdata&jsp%5FetdId=3767.

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Thesis (Ph. D.)--West Virginia University, 2004.
Title from document title page. Document formatted into pages; contains ix, 127 p. : ill. (some col.). Includes abstract. Includes bibliographical references (p. 111-127).

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28

De, Silva H. A. "Characterization of potassium fluxes in human platelets and their abnormalities in Alzheimer's disease." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.361946.

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29

Herman, Kazibwe. "Barriers experienced by parents/caregivers of children with clubfoot deformity attending specific clinics in Uganda." Thesis, University of the Western Cape, 2006. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_9901_1194348551.

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Clubfoot is the most common congenital structural deformity that leads to physical impairments in children in many poor developing countries. Inadequately treated or neglected clubfoot has been found to be a common cause of ohysical disability globally among children and young growing adults. Many children are referred to the clinics for treatment but some parents do not comply with the treatment regimen whcih requires attending for consecutive treatment sessions. The purpose of this study was to investigate barriers to treatment attendance parents/caregivers of children with clubfoot encounter in complying with clubfoot treatment during the plaster csting phase in Uganda.

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30

Rosa, Fraga Lucas. "Analysing phenotypes and molecular mechanisms of thalidomide and Primodos teratogenesis." Thesis, University of Aberdeen, 2016. http://digitool.abdn.ac.uk:80/webclient/DeliveryManager?pid=231144.

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Thalidomide was discovered to be teratogenic over 50 years ago, but is far from being a historical problem. A new generation of thalidomide survivors have been reported in Brazil, where the drug is used to treat leprosy complications and multiple myeloma. The mechanisms underlying thalidomide teratogenesis are not fully understood. Cereblon (CRBN) protein has been identified as a target of thalidomide. Cereblon is part of an E3 ubiquitin ligase complex with Damaged DNA Binding protein 1 and Cullin-4A. I have analysed the expression patterns of CRBN and its binding partners in wildtype and thalidomide-treated chicken and zebrafish embryos. My results show that CRBN complex genes are weakly expressed in multiple tissues, including those not affected by thalidomide, and do not change following thalidomide exposure. I have also investigated the teratogenic potential of Primodos, a drug claimed to be “the forgotten thalidomide”. This drug was used as a pregnancy test between 1950's and 1970's. Primodos is alleged to be teratogenic but still is not recognised as one. Several epidemiological studies have been conducted, with conflicting results. I have been analysing the teratogenic properties of Primodos in chicken and zebrafish embryos and found that Primodos causes a range of malformations in zebrafish embryos. I have also carried out molecular analyses that show Primodos causes gene expression changes, changes in blood vessel patterning and neurite outgrowth in vivo and in vitro and increase in cell death. Finally, I have investigated the role of blood vessels in limb development and patterning. Using an antiangiogenic analogue of thalidomide, I found that inducing blood vessel loss in different regions of the forelimb bud of developing chicken results in different phenotypes. My results suggest that blood vessels might be involved in limb patterning and progress the understanding of limb defects observed in thalidomide survivors.

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31

Pauls, David G. "Evangelical attitudes towards human enhancement a survey of the Midwest District of the Evangelical Free Church of America /." Theological Research Exchange Network (TREN) Theological Research Exchange Network (TREN) Access this title online, 2006. http://www.tren.com.

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32

Rahman, Md Atiqur. "Alternative Approach to Proliferation Pathway Suppression in Human Cancers." Thesis, Griffith University, 2016. http://hdl.handle.net/10072/366030.

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Cancer is a disease driven by complex genetic abnormalities. The ultimate outcome of these complex genetic disorders is uncontrolled cell proliferation. There are two major cellular proliferation and survival signalling pathways which are RAS-RAF- MEK-ERK and PI3K-AKT-mTOR proliferation-survival pathways. These proliferation-survival cell signalling pathways receive, carry and transfer important cell signals to the nucleus where the major transcription changes required for cell proliferation and survival occur. In normal cells, this proliferation cell signalling process is controlled, but this process becomes uncontrolled in cancer cells due to complex genetic changes like genetic mutations. One such genetic mutation is the BRAF V600E mutation which transforms the BRAF kinase into an auto-activated kinase. As a result, the RAS-RAF-MEK-ERK proliferation-survival pathway becomes truncated and auto-activated BRAF kinase continuously sends proliferation-survival signals to the nucleus through downstream MEK-ERK signalling molecules. Therefore, BRAF V600E mutated cells proliferate without control, invade & damage surrounding tissues and metastasise all over the body.
Thesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Medical Science
Griffith Health
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33

Greeff, Christopher Whitney 1961. "CYTOGENETIC ABNORMALITIES AND THE PROGRESSION TO INVASION IN A375P HUMAN MELANOMA CELLS IN VITRO." Thesis, The University of Arizona, 1987. http://hdl.handle.net/10150/276462.

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A study was undertaken to determine whether cytogenetic abnormalities can be identified in an invasive melanoma cell population that has been selected in vitro out of a larger cell population of low invasive potential. The selecting agent was a denuded human amniotic membrane situated within Mega-Membrane Invasion Culture System chambers. Invasive cells were collected, grown, and harvested for cytogenetic analysis. Metaphases of these cells were examined for chromosomal abnormalities and for evidence of gene amplification in the form of double minute chromosomes. Invasive cell lines evinced changes in their degree of aneuploidy which were not seen in parental control lines of the same passage number. Significant karyotypic abnormalities identified in invasive cell lines were an increased dosage of chromosome 7 and multiple 1q translocation marker chromosomes. Double minute chromosomes were found in up to 18% of invasive cell metaphases examined and in 3% of parental controls. The incidence of double minutes was found to decrease as a function of passage number.

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34

Oakey, Rebecca. "The structure of alphoid satellite DNA on normal and abnormal human Y chromosomes." Thesis, University of Oxford, 1989. http://ora.ox.ac.uk/objects/uuid:162cb1a7-3176-4b56-be8b-353b65fee236.

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The long-range structure of the Y chromosome alphoid satellite DNA has been determined in the cell lines 3E7 and OXEN. Variation in alphoid DNA block size and restriction enzyme sites were observed. The alphoid block size and restriction enzyme site variations were determined for a collection of 42 normal Y chromosomes. The alphoid DNA polymorphisms observed denned 24 Y chromosome alleles. Unexpectedly, the Y alphoid DNA alleles analysed revealed two distinct groups of Y chromosomes indicating that most of the Caucasian and Asian men analysed were descended from one of two males. The structure of the alphoid DNA was determined for 25 cell lines expected to contain abnormal Y chromosomes. Six of the cell lines lacked Y chromosomes. Four lacked both alphoid DNA and Y a centromere. 13 out of the remaining 15 Y chromosomes had centromeres and Y alphoid DNA block sizes and restriction enzyme site variation similar to that of normal Y chromosome alphoid DNA. Two of the abnormal cell lines had alphoid DNA blocks significantly different from the normal Y alphoid DNA structure. These results confirm that alphoid DNA is located very close to, or at the centromere and make it a prime candidate for a functional mammalian centromere sequence.

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35

BELL, CARL WAYNE. "CYTOGENETIC EVALUATION OF HUMAN GLIAL TUMORS: CORRELATION OF OVEREXPRESSION OF EPIDERMAL GROWTH FACTOR RECEPTOR (EGFR) WITH ABNORMALITIES OF CHROMOSOME 7." Diss., The University of Arizona, 1987. http://hdl.handle.net/10150/184108.

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Chromosome banding analysis of human glial tumors was performed using G- and Q-banding techniques in an attempt to establish recurring sites of chromosome change. Results revealed a nonrandom karyotypic profile including aneuploidy and considerable variation in chromosome number (range 40 → 200). All tumors examined displayed numerical abnormalities, with the most common numeric change being a gain of chromosome 7. Chromosomes most frequently involved in structural abnormalities included #1, #3, #7, and #11. Double minutes, reported to be frequently associated with human glial tumors, were observed in only one of ten tumors examined. These results (taken in conjunction with previously published reports) suggest that the single most frequently altered chromosome in human glial tumors is chromosome 7. An attempt was then made to correlate the observed chromosome 7 changes with activation of the cellular proto-oncogene c-erb-B, whose product is the epidermal growth factor receptor (EGFR). Six human glial tumors were analyzed for ¹²⁵I-EGF binding, EGFR gene copy number, EGFR gene rearrangement, mRNA expression, and karyotypic profile. Saturation analysis at 4°C revealed significant numbers of EGFR's in all 6 tumors. Southern blotting analysis utilizing cDNA probes for the EGFR failed to demonstrate significant amplification or structural rearrangement of the EFGR gene. Analysis of EGFR mRNA revealed significant levels in 3 of the tumors studied as compared to the A341 cell line. Karyotypic analysis revealed that all six cell lines displayed extra copies of both whole and structurally altered chromosome 7. These results may suggest that EGFR overexpression is associated with alterations of chromosome 7 (the locus for the EGFR gene). In contrast to previous reports, EGFR mRNA levels did not directly parallel EGF receptor numbers. These results suggest that overexpression of the EGFR may be related to an alternative mechanism, other than gene amplification and elevated mRNA levels, such as the regulation of receptor biosynthesis and degradation. In summary, findings indicate that alterations of chromosome 7 are the most prevalent chromosomal change in human glial tumors, and that these alterations may lead to overexpression of the proto-oncogene c-erb-B.

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36

Margaretten, Nadine C. "Effects of Antiepileptic Drugs on Immune Function in Human Subjects and Mice." DigitalCommons@USU, 1985. https://digitalcommons.usu.edu/etd/4639.

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A number of immune abnormalities have been found in epileptic patients treated with antiepileptic drugs (AED). The alterations seen range from mild suppression of immunoglobulins to severly impaired humoral and cellular immunities. There is evidence for both drug effects and genetic or acquired factors as contributors to these abnormalities. In order to examine the basis for immune abnormalities in patients with epilepsy, a number of experimental designs were employed: clinical studies, in vitro studies, and use of an animal model. Peripheral blood mononuclear cells (PBMC) isolated from epileptic patients currently receiving AED were found to have a reduced OKT4+/0KT8+ ratio. A reduced natural killer (NK) cell activity was found which may be due to a low proportion of Leu 11+ cells. A reduced NK cell activity was also found in healthy siblings of the patients, indicating a possible genetic basis for the level of this activity. Antibody-dependent cell-mediated cytotoxicity {ADCC), mitogenic responses, and total rosette-forming cells of PBMC isolated from patieots were found to be normal. The AED phenytoin has been associated with a variety of immune function alterations and lymphoma. In this study, phenytoin was found to depress basal and augmented NK cell activity of human cells in a dose-dependent manner in vitro. This depression was reversible following short-term exposure and at levels considered therapeutic. Phenytoin also depressed ADCC, thus one mechanism by which phenytoin alters immune function is by its depression of cell -mediated cytotoxicity. In contrast to results obtained with phenytoin, the AED carbamazepine did not significantly alter NK cell activity, but the diluent propylene glycol depressed activity. NFS mice given phenytoin produced lower specific antibody titers following antigen challenge. Body weights, specific organ weights for thymus, spleen, and liver, and blood cell counts were normal in these mice. The protocol was well tolerated by the animals at phenytoin dosages ranging from therapeutic to neurotoxic. Susceptibility to murine hepatitis virus was found to be increased in mice given a high dose of phenytoin. This animal model should allow investigations into toxic dose levels and mechanisms by which phenytoin and other AED alter immune function.

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37

Sims, Gwenivere. "Plantar force differences before and after an ultra-endurance event." Thesis, Nelson Mandela Metropolitan University, 2011. http://hdl.handle.net/10948/d1012795.

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The aim of this study was to determine the pre- and post-plantar force differences of athletes competing in an ultra-endurance event. The study was exploratory and quasi-experimental in nature and utilized a quantitative approach. A Quasi-experimental, one group pretest, posttest design was used. The study involved 84 participants selected by means of convenient sampling from a total of 1552 participants. The equipment used for data collection was the RS Footscan®, stadiometer and a weight scale. Differences between the plantar forces before and after the competition were significant for the sample group, indicating higher forces before the competition (t = -3.62, p = 0.001, d = 0.40). Gender, and novice and expert groupings had no significant effect on the plantar forces (t = 1.43, p = 0.155 and t = 0.21, p = 0.837) respectively. Gender groups had large significant differences between the left and right forefoot (t = 3.90, p = 0.000) and the heel (t = 3.54, p = 0.001), before the competition, but this difference was reduced after the competition from large to moderate significance for the forefoot and the heel (t = 2.84, p = 0.006 and t = 2.99 and p = 0.004) respectively. Lower forces after the ultra-endurance event may indicate compensation due to overuse; with less muscle contraction to control foot roll over for force distribution. Favouring of the right foot for weight bearing changed after the event with smaller differences, which could indicate increase loading of the left feet, which may result in injury. The number of females included in this study was relatively few and therefore the effect of gender in respect of plantar foot force exerted should be interpreted with caution. The novices recorded higher forces in the forefoot, after the competition. Similar results were found in other studies that reported increased pressures under the forefoot after long distance running. The latter findings may suggest that novices have a higher chance for overuse injury.

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38

Li, Fang, and 李芳. "An analysis of 25,000 cases from a hospital in Guangdong birth defect monitoring network during 2000 to 2005." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B39724487.

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39

Chiu, Kam-hung, and 趙錦鴻. "Genetic aberrations in chronic lymphocytic leukaemia as prognostic markers." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B41290781.

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40

Chiu, Kam-hung. "Genetic aberrations in chronic lymphocytic leukaemia as prognostic markers." Click to view the E-thesis via HKUTO, 2008. http://sunzi.lib.hku.hk/hkuto/record/B41290781.

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41

Hornby, Ann Elizabeth. "Detection of a mutation in a human LCAT gene." Thesis, University of British Columbia, 1988. http://hdl.handle.net/2429/27958.

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LCAT deficiency is a rare autosomal recessive disease characterized by low levels of plasma HDL and an inability of the enzyme lecithin:cholesterol acyltransferase (LCAT) to esterify cholesterol. An understanding of the structure and function of the LCAT protein will add significantly to the understanding of reverse cholesterol transport. This understanding can be gained, in part, by studying different mutations within the LCAT gene and their resultant phenotypes. Recombinant DNA technology has been used to determine the nature of a mutation in an LCAT gene of a previously described homozygote with this disorder. Southern blot analysis determined there were no major rearrangements in the genomic DNA at the LCAT locus. An attempt was made to follow segregation of the mutant alleles in three generations of a large pedigree by linkage analysis. There are known polymorphisms at the haptoglobin (Hp) locus, which is linked to LCAT on the long arm of chromosome 16, and in the adenosine phosphoribotransferase (APRT) and choesterol ester transfer protein (CETP) loci which are also on the long arm of chromosome 16, but have not been shown linked to LCAT. The information gained was uninformative in this pedigree. An extensive restriction fragment length polymorphism (RFLP) search in the immediate vicinity of the LCAT gene did not reveal any polymorphic sites. 2.4 kb of the ⋋ phage clone SF1020, obtained from one of the homozygotes, containing exons 1-5 plus 0.5 kb of DNA 5¹ to the LCAT gene, but not exon 6, was subcloned into M13 and sequenced. A cytosine to thymidine (C->T) transition was discovered in exon 4. This would result in a substitution of tryptophan for arginine at amino acid 135. The amino acid arginine is positively charged and resides in one of the most highly charged segments along the amino acid chain of the LCAT protein indicating that this region is likely involved in protein folding. Tryptophan, on the other hand is the most hydrophobic of the amino acids and would, therefore, severely disrupt the interaction of charged amino acids in that region, preventing normal folding of the LCAT protein.
Medicine, Faculty of
Medical Genetics, Department of
Graduate

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42

Fragouli, Elpida. "The detection of chromosomal abnormalities in human oocytes and preimplantation embryos by molecular cytogenetic analysis." Thesis, University College London (University of London), 2005. http://discovery.ucl.ac.uk/1445491/.

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Chromosome abnormalities are observed very frequently in humans. Several types of structural chromosome abnormalities have been identified, with chromosome translocations, both reciprocal and Robertsonian, being the most common in the population. Balanced carriers of such rearrangements could be at risk of generating abnormal offspring due to the meiotic segregation of the translocation. Preimplantation Genetic Diagnosis (PGD) has allowed the extensive cytogenetic investigation of embryos from such patients with the application of Fluorescent in situ hybridisation (FISH). The first part of this work involved the development of robust three-colour FISH protocols for their clinical application for the PGD for three reciprocal translocations, two different Robertsonian translocations and two cases of suspected gonadal mosaicism. Five of these patients underwent 1-2 cycles of treatment, and 21 normal/balanced embryos were detected and transferred to the maternal uterus. One clinical pregnancy was established with a subsequent live birth of a healthy male infant in a case of a female reciprocal translocation carrier. Extensive FISH examination of the non-transferred embryos showed evidence of post-zygotic mosaicism in 73.4% of them, with chaotic embryos predominating. Both meiotic and mitotic mechanisms leading to chromosome gain and/or loss were identified in this group of embryos.

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43

Konstantinidis, Michalis. "Preimplantation genetic diagnosis : new methods for the detection of genetic abnormalities in human preimplantation embryos." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:28611f65-7729-4293-9c3f-4fc3f0cc39d7.

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Preimplantation genetic diagnosis (PGD) refers to the testing of embryos produced through in vitro fertilization (IVF) in order to identify those unaffected by a specific genetic disorder or chromosomal abnormality. In this study, different methodologies were examined and developed for performance of PGD. Investigation of various whole genome amplification (WGA) methods identified multiple displacement amplification as a reliable method for genotyping single cells. Furthermore, this technology was shown to be compatible with subsequent analysis using single nucleotide polymorphism (SNP) microarrays. Compared to conventional methods used in this study to perform single cell diagnosis (e.g. multiplex PCR), WGA techniques were found to be advantageous since they streamline the development of PGD protocols for couples at high risk of transmitting an inherited disorder and simultaneously offer the possibility of comprehensive chromosome screening (CCS). This study also aimed to develop a widely applicable protocol for accurate typing of the human leukocyte antigen (HLA) region with the purpose of identifying embryos that will be HLA-identical to an existing sibling affected by a disorder that requires haematopoietic stem cell transplantation. Additionally, a novel microarray platform was developed that, apart from accurate CCS, was capable of reliably determining the relative quantity of mitochondrial DNA in polar bodies removed from oocytes and single cells biopsied from embryos. Mitochondria are known to play an important role in oogenesis and preimplantation embryogenesis and their measurement may therefore be of clinical relevance. Moreover, real-time PCR was used for development of protocols for CCS, DNA fingerprinting of sperm samples and embryos and the relative quantitation of telomere length in embryos (since shortened telomeres might be associated with reduced viability). As well as considering the role of genetics in terms of oocyte and embryo viability assessment and the diagnosis of inherited genetic disorders, attention was given to a specific gene (Phospholipase C zeta) of relevance to male infertility. A novel mutation affecting the function of the resulting protein was discovered highlighting the growing importance of DNA sequence variants in the diagnosis and treatment of infertility.

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44

Holden, Lynn Rosemary. "A motif-index of abnormalities, deformities and disabilities of the human form in traditional narrative." Thesis, University of Edinburgh, 1988. http://hdl.handle.net/1842/18969.

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45

Suthers, Graeme Kemble. "The human gene map near the fragile X /." Title page, table of contents and summary only, 1990. http://web4.library.adelaide.edu.au/theses/09PH/09phs966.pdf.

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Thesis (Ph. D.)--Dept. of Paediatrics, Faculty of Medicine, University of Adelaide, 1991.
Typescript (Photocopy). Includes published papers co-authored by the author at the end of volume 2. Includes bibliographical references (leaves 195-237 of vol. 1).

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46

Golden, Jackelyn B. "Abnormalities in the Adhesion and Aggregation Profiles of Circulating Monocytes in Psoriasis." Case Western Reserve University School of Graduate Studies / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=case1441361209.

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47

Kazemi-Esfarjani, Parsa. "Functional analysis of the human androgen receptor using synthetic and naturally occurring mutations." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=42065.

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The human androgen receptor (hAR) is a ligand-activated transcription factor, and like other nuclear receptors, consists of a N-terminal modulatory domain, a central DNA-binding domain, and a C-terminal ligand-binding domain (LBD). Several missense mutations in the LBD cause androgen insensitivity syndrome (AI), a condition in XY individuals with absent or subnormal male primary and secondary sexual characteristics. On the other hand, abnormal expansion of a polyglutamine tract in the N-terminal domain of the hAR causes spinal and bulbar muscular atrophy (SBMA) which also affects males and causes milder forms of AI, in addition to adult-onset motor neuron degeneration and gradual wasting and weakening of the muscles of the limbs, face, throat, and tongue. However, it was not clear how and to what extent these mutations contribute to the clinical phenotype of the affected individuals. In order to investigate this matter, I used PCR site-directed mutagenesis to create plasmids expressing hARs with two pairs of missense mutations in the LBD (Val865Leu and Val865Met, and Arg839His and Arg839Cys), discovered in AI individuals with varying severity of the phenotype, and two abnormal expansions of the polyglutamine repeat discovered in SBMA patients (40 and 50 glutamines). I also synthesized plasmids expressing no glutamines (0 glutamines), 12 glutamines, or 20 glutamines in the same N-terminal region of the hAR. These plasmids were transiently expressed in heterologous cells (COS-1 and PC-3), and the mutant hARs were assayed for ligand binding, stability, and transactivational capacity.
In contrast to the findings by others (McPhaul et al., 1992; Marcelli et al., 1994), in some instances involving identical mutations, I consistently observed a correlation between the biochemical phenotype of the mutant hARs and the clinical phenotype of AI individuals; that is, the more severe receptor phenotype was associated with the more severe AI. These results support the hypothesis that hAR phenotype is the dominant factor in the development of the secondary sexual characteristics in normal and affected individuals.
I also observed a tight negative correlation between polyglutamine tract length and transactivational capacity. This suggests that polyglutamine modulates the activity of the hAR, and that hAR activity might be suppressed in various androgen-sensitive tissues (including motor neurons) in SBMA individuals, thereby contributing to the age of onset and/or progression of the disease, even if it cannot be the primary pathogenic agent of the disease.

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48

Campbell, Tania, and n/a. "When two worlds meet : an examination of the intersection between scientific views of genetic testing and the realm of popular culture." University of Otago. Department of Anthropology, 2004. http://adt.otago.ac.nz./public/adt-NZDU20070504.112700.

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This thesis explores the variety of ways in which scientific views of genetic testing are portrayed in the realm of popular culture. As a case study, I have used the identification of the gene for hereditary stomach cancer which occurred in New Zealand in 1998, and was the result of a partnership between the affected whanau and scientists from the University of Otago. Both the empirical and theoretical findings of this project have shown how such accounts are not neutral or transparent. Rather, they are positioned to represent certain values and ideas, and this is even more evident when those affected are Maori. However, considering textual representations of the gene and cancer has revealed the importance of taking into account the fact that these 'things' are also physical and material. I consider the implications of this and consider the ways in which the whanau health workers negotiate the fetishism apparent in biomedicine. Despite its misgivings, biomedicine has immense benefits, some of which the whanau have manipulated and appropriated for their own good, although they do so on their own terms. Despite the many complexities involved in this case study, this is a positive and hopeful story where those involved in the stomach cancer gene project have emerged with improved solutions.

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49

Wong, Hoi-man Emily, and 黃凱敏. "Genome-wide association analyses on complex diseases: from single-nucleotide polymorphism to copy numbervariation." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hub.hku.hk/bib/B50534099.

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Complex diseases, unlike Mendialian diseases, are often characterized by genetic heterogeneity and multifactorial inheritance, involving defects in genes from the same or multiple alternative pathways. Many congenital diseases and psychiatric disorders are complex diseases, and incur heavy health care burden on the society. With the advancement in high-throughput genotyping technologies and the availability of the human single nucleotide polymorphism (SNP) catalogue, genome-wide association study (GWAS) has been widely used to investigate the genetic component of complex diseases. Copy number variations (CNV) can also be identified using the data from the same SNP array. Aiming to identify more disease susceptibility loci for complex diseases, separate GWAS using a case-control design were conducted on anorectal malformations (ARMs) and schizophrenia. ARMs are rare congenital diseases with heterogeneous phenotypes which could probably be explained by the genetic heterogeneity among patients, while schizophrenia is a common psychiatric disorder that is well known for its multigenic inheritance. The GWAS studies on ARM and schizophrenia included 4,369 (patients: N=363; controls: N=4,006) and 1,231 Han Chinese (patients: N=381; controls: N=850) respectively. The two studies were mainly focused on investigating the contribution of rare CNVs to the diseases, involving analyses on global CNV burden, rare CNV association, protein-protein interaction (PPI) network, pathway and chromosomal aberrations. The associations of SNPs with ARMs were also examined. Apart from elucidating the genetic components in these two diseases, a systematic analysis on four CNV detection programs (CNV partition, PennCNV, QuantiSNP and iPattern) was also undertaken. In the study of schizophrenia, a new approach in CNV filtering which was based on latent class analysis was adopted to gather information from multiple CNV prediction programs. The study of ARMs revealed 79 genes which were disrupted by CNVs in patients only. In particular, a de novo duplication of DKK4 (an antagonist of WNT signaling) was identified, and addition of Dkk4 protein was demonstrated to cause ARMs in mice. Another 10 genes uniquely disrupted in ARMs patients are also related to WNT signaling. Interestingly, this pathway was also significantly inferred by CNV in patients with schizophrenia. A different set of genes related to WNT signaling was disrupted in ARMs patients and patients with schizophrenia. WNT signaling is crucial for the development of multiple parts in the embryo. The contribution of different WNT signaling pathways at different development stages may vary. Apart from the WNT signaling pathway, other genes with biological relevance were also implicated in the two studies through gene-network and pathway analyses. The results from these two GWAS studies support our existing understanding of complex diseases that defects in various interacting genes could contribute to the same disease. In summary, the CNV results from the two studies have demonstrated the genetic heterogeneity nature of these two complex diseases. The findings also uncovered a set of putative disease candidate genes, which can be used as reference materials for future genetic research for ARMs and schizophrenia.
published_or_final_version
Psychiatry
Doctoral
Doctor of Philosophy

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50

Coultas, Susan L. (Susan Lynette). "A comparison of straight-stained, Q-stained, and reverse flourescent-stained cell lines for detection of fragile sites on the human X chromosome." Thesis, North Texas State University, 1985. https://digital.library.unt.edu/ark:/67531/metadc798127/.

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Cell cultures were examined for percentage of fragile sites seen in straight-stained, Q-stained and reverse fluorescent-stained preparations. In all cases, percentage of fragile site expression was decreased when compared to straight-stained preparations. However, fragile sites seen in Q- and RF-stain could be identified as on X chromosomes.

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