To see the other types of publications on this topic, follow the link: Human chromosome abnormalities.

Dissertations / Theses on the topic 'Human chromosome abnormalities'

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 dissertations / theses for your research on the topic 'Human chromosome abnormalities.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.

1

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.

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
2

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
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.

Full text
Abstract:
Note:
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. [...]
APA, Harvard, Vancouver, ISO, and other styles
4

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

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.

Full text
Abstract:
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).
APA, Harvard, Vancouver, ISO, and other styles
7

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
11

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/.

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
12

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
13

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.

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
14

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
15

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.

Full text
Abstract:
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).
APA, Harvard, Vancouver, ISO, and other styles
16

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.

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
17

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

Full text
Abstract:
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
APA, Harvard, Vancouver, ISO, and other styles
18

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.

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
19

Curwen, Gillian B. "G₂ chromosomal radiosensitivity in childhood and adolescent cancer survivors and their offspring." Thesis, St Andrews, 2008. http://hdl.handle.net/10023/425.

Full text
APA, Harvard, Vancouver, ISO, and other styles
20

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.

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
21

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
22

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
23

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
24

Koen, Liezl. "Chromosomal aberrations in the Xhosa shizophrenia population /." Link to the online version, 2008. http://hdl.handle.net/10019/1697.

Full text
APA, Harvard, Vancouver, ISO, and other styles
25

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.

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
26

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.

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
27

Chiu, Pui-man. "Molecular genetics of cervical cancer from chromosome number alterations to aberrant gene expressions /." Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B43085544.

Full text
APA, Harvard, Vancouver, ISO, and other styles
28

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.

Full text
Abstract:
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).
APA, Harvard, Vancouver, ISO, and other styles
29

Li, Sze-wing Vivian. "Profiling of gene expression changes in human colon crypt maturation and study of their dysregulation in tumourigenesis." Click to view the E-thesis via HKUTO, 2008. http://sunzi.lib.hku.hk/hkuto/record/b40203384.

Full text
APA, Harvard, Vancouver, ISO, and other styles
30

Wong, Chi-wai. "High resolution mapping of loss of heterozygosity and chromosomal aberrations using oligonucleotide single nucleotide polymorphism genotyping arrays in colorectal adenoma to carcinoma progression." Click to view the E-thesis via HKUTO, 2006. http://sunzi.lib.hku.hk/hkuto/record/B3871923X.

Full text
APA, Harvard, Vancouver, ISO, and other styles
31

Mohaddes, Ardebili Seyed Mojtaba. "Optimisation of interphase fluorescence in situ hybridisation for detection of common aneuploidies." Thesis, Connect to e-thesis, 1996. http://theses.gla.ac.uk/692/.

Full text
Abstract:
Thesis (Ph.D.) - University of Glasgow, 1996.
Ph.D. thesis submitted to the Faculty of Medicine, Department of Division of Developmental Medicine, University of Glasgow, 1996. Includes bibliographical references: p. 118-132. Print version also available.
APA, Harvard, Vancouver, ISO, and other styles
32

Terry, Samantha Y. A. "A role for topoisomerase II alpha in chromosome damage in human cell lines." Thesis, University of St Andrews, 2010. http://hdl.handle.net/10023/873.

Full text
Abstract:
Human response to ionising radiation (IR) shows a wide variation. This is most clearly seen in the radiation-response of cells as measured by frequencies of chromosomal aberrations. Different frequencies of IR-induced aberrations can be conveniently observed in phytohaemagglutin-stimulated peripheral blood T-lymphocytes from both normal individuals and sporadic cancer cases, in either metaphase chromosomes or as micronuclei in the following cell cycle. Metaphase cells show frequent chromatid breaks, defined as chromatid discontinuities or terminal deletions, if irradiated in the G 2 -phase of the cell cycle. It has been shown that the frequency of chromatid breaks in cells from approximately 40% of sporadic breast cancer patients, are significantly higher than in groups of normal individuals. This suggests that elevated radiation-induced chromatid break frequency may be linked with susceptibility to breast cancer. It is known that chromatid breaks are initiated by a double strand break (DSB), but it appears that the two are linked only indirectly as repair kinetics for DSBs and chromatid breaks do not match. Therefore, the underlying causes of the wide variation in frequencies of chromatid breaks in irradiated T-lymphocytes from different normal individuals and from sporadic breast cancer cases are still unclear but it is unlikely to be linked directly to DSB rejoining. My research has focused on the mechanism through which chromatid breaks are formed from initial DSBs. The lack of a direct association suggested that a signalling process might be involved, connecting the initial DSB and resulting chromatid break. The signal model, suggested that the initial DSB is located within a chromatin loop that leads to an intra- or interchromatid rearrangement resulting in incomplete mis-joining of chromatin ends during the decatenation of chromatids during G 2 . It was therefore proposed that topoisomerase II alpha (topo IIα) might be involved, mainly because of its ability to incise DNA and its role in sister chromatid decatenation. During my PhD research I have used a strategy of altering topo II activity or expression and studying whether this alters IR-induced chromatid break frequency. The first approach involved cell lines that varied in topo IIα expression. The frequency of IR-induced chromatid breaks was found to correlate positively with topo IIα expression level, as measured in three different cell lines by immunoblotting, i.e. two cell lines with lower topo IIα expression exhibited lower chromatid break frequency. Topo II activity in these three cell lines was also estimated indirectly by the ability of a topo IIα poison to activate the G 2 /M checkpoint, and this related well with topo IIα expression. A second approach involved ‘knocking down’ topo IIα protein expression by silencing RNA (siRNA). Lowered topo IIα expression was confirmed by immunoblotting and polymerase chain reaction. SiRNA-lowered topo IIα expression correlated with a decreased IR-induced chromatid break frequency. In a third series of experiments cells were treated with ICRF-193, a topo IIα catalytic inhibitor. It was shown that inhibition of topo IIα also significantly reduced IR-induced chromatid breaks. I also showed that lowered chromatid break frequency was not due to cells with high chromatid break frequencies being blocked in G 2 as the mitotic index was not altered significantly in cells with lowered topo IIα expression or activity. These experiments show that topo IIα is involved in IR-induced chromatid break formation. The final experiments reported here attempted to show how topo II might be recruited in the process of forming IR-induced chromatid breaks. Hydrogen peroxide was used as a source of reactive oxygen species (reported to poison topo IIα) and it was shown that topo IIα under these conditions is involved in the entanglement of metaphase chromosomes and formation of chromatin ‘dots’ as well as chromatid breaks. Experiments using atomic force microscopy attempted to confirm these dots as excised chromatin loops. The possible role of topo IIα in both radiation- and hydrogen peroxide-induced primary DNA damage was also tested. It was shown that topo IIα does not affect radiation-induced DSBs, even though it does affect chromatid break frequency. Also, topo IIα does not affect hydrogen peroxide-induced DNA damage at low doses. The results support the idea that topo IIα is involved in the conversion of DSBs to chromatid breaks after both irradiation and treatment with hydrogen peroxide at a low concentrations. I have demonstrated that topo IIα is involved in forming IR-induced chromatid breaks, most likely by converting the initial DSBs into chromosomal aberrations as suggested by the signal model.
APA, Harvard, Vancouver, ISO, and other styles
33

Irwin, Darryl L. "High throughput genetic analysis of limited numbers of cells /." [St. Lucia, Qld.], 2004. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe17849.pdf.

Full text
APA, Harvard, Vancouver, ISO, and other styles
34

Lemmens, Trudo. "Genetic information and insurance : a contextual analysis of legal and regulatory means of promoting just distributions." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84213.

Full text
Abstract:
This thesis analyzes the rationale, appropriateness and value of the available legal and regulatory means to deal with genetic discrimination in the context of insurance. Insurance is used as a paradigm case for discussing the legal means to address the concerns related to the impact of new medical technologies. A new framework is proposed for evaluating the potential impact of such new technologies on people's ability to participate fully in social life and to have access to important social goods without unfair discrimination based on certain inherited traits.
A "thick" contextual method is used, which involves a detailed description of the medical, social, and legal context of the debate. The approach is based on Michael Walzer's theory of justice, which posits that in assessing the fairness of the distribution of a particular good, one must take into account the nature of the good as determined by the specific socio-historical context in which it obtains its shared meaning. Walzer's theory is used in the thesis to critically analyze the regulatory and legislative means introduced in several countries to curb genetic discrimination. It is further argued that Walzer's contextual analysis resembles the approach taken by the Canadian Supreme Court in the context of anti-discrimination law. Canadian human rights law is analyzed in detail to describe how genetic discrimination could be dealt with under the current provisions and how human rights law can be used to create conditions of substantive equality. The thesis concludes with an analysis of various legal and regulatory options to deal with genetic discrimination and its impact on human rights in the Canadian context. The establishment of a regulatory body is proposed, with the mandate to review the appropriateness of the use of new tests in the context of insurance. I argue that this review process, and the contextual analysis that should be involved in this process, would constitute a useful step towards creating conditions for substantive equality, not only for those who are genetically disabled, but for all those who are affected by real or perceived disabling conditions and stigmatizing traits.
APA, Harvard, Vancouver, ISO, and other styles
35

Metterville, Danielle R. "Assessing Fragile X premutation carriers' knowledge of the premutation phenotype." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23257.

Full text
APA, Harvard, Vancouver, ISO, and other styles
36

Chiu, Pui-man, and 趙佩文. "Molecular genetics of cervical cancer: from chromosome number alterations to aberrant gene expressions." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B43085544.

Full text
APA, Harvard, Vancouver, ISO, and other styles
37

Lacroix, Mireille 1971. "Genetic information and the family : a challenge to medical confidentiality." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=80935.

Full text
Abstract:
Because of its perceived ability to predict future health and its relevance for family members, genetic information challenges the traditional justifications for medical confidentiality. This thesis examines the question whether a health care professional should have the discretion or a duty to breach confidentiality in order to inform a patient's relatives of their increased genetic risk. There is currently no exception to the statutory, common law and ethical duties of confidentiality for the non-consensual disclosure of genetic information to relatives. Precedents developed in the context of threats of harm and communicable diseases are of limited value. The law should not recognise the existence of a duty to warn in the context of genetics. As a last resort, health care professionals should be authorized, but not required, to disclose genetic risk information when there is a serious risk of preventable harm and when the potential harm of non-disclosure outweighs that of disclosure.
APA, Harvard, Vancouver, ISO, and other styles
38

Simmonds, Margaret. "Girls/women in inverted commas : facing 'reality' as an XY-female." Thesis, University of Sussex, 2012. http://sro.sussex.ac.uk/id/eprint/43431/.

Full text
Abstract:
XY-women with conditions such as Androgen Insensitivity Syndrome (AIS) have male sex chromosomes, internal (abdominal) testicular or gonadal streak tissue, and no ovaries or (usually) uterus, but are otherwise female in body form and gender identity/role. Many have no reason to doubt a female sex until they are investigated for failure to menstruate. Using mixed-method (quantitative and qualitative) empirical methodology, the study reveals how XY-women discovered their diagnosis, with an in-depth analysis of the medical and societal discourses that shaped the labels/identities to which they have been subjected or they have assumed. Data was collected by questionnaire from 114 women recruited via a peer support group. The study is interdisciplinary, spanning medicine, psychology, sociology and feminist gender theory. It is informed by a range of theories including patriarchy and medicalisation (including terminology issues), sexual dimorphism, sex versus gender, social construction, abjection, self-surveillance and performativity, and sexual difference and corporeality. Many participants had experienced diagnostic secrecy by doctors, particularly in N. America. Younger participants had benefited from a recent move to truth disclosure. Participants had found the androcentric medical discourse/terminology difficult to reconcile with their female appearance, identity and social role; and did not approve of the degree of medicalisation. Infertility was the greatest personal concern but most thought that possession of a vagina was society's main criterion for womanhood. Most seemed secure in their female gender, although some were aware of a degree of performativity. Knowledge of their male biological attributes seemed problematic for many (especially those with Swyer Syndrome1), with expressions of inauthenticity, fraud or freakishness by some. Participants showed little awareness of gender theory and even the idea of a sex versus gender conceptual split seemed confusing for many, but clearer to those in N. America. The majority seemed to construct a totally female sex, although some entertained the idea of an intersexed sex, particularly those in N. America and those with a lesbian or bisexual orientation. The lesbian/bisexual sub-group, and those with a PAIS diagnosis, also showed the greatest awareness of gender performativity. Advocacy is a key aspect of the project, developing the argument that the androcentric focus of intersex medicine and the poor provision of clinical psychology restricts the opportunities for these patients to explore alternative discourses and non-medical meanings of their diagnosis. 1. But needs clarifying using a larger sample.
APA, Harvard, Vancouver, ISO, and other styles
39

Li, Sze-wing Vivian, and 李思穎. "Profiling of gene expression changes in human colon crypt maturation and study of their dysregulation in tumourigenesis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B40203384.

Full text
APA, Harvard, Vancouver, ISO, and other styles
40

Lapsys, Naras Mykolas. "The FRA 16B locus : long range restriction mapping of 16q13-16q22.1 /." Title page, table of contents and summary only, 1993. http://web4.library.adelaide.edu.au/theses/09PH/09phl317.pdf.

Full text
APA, Harvard, Vancouver, ISO, and other styles
41

Donnelly, Andrew James. "The characterisation of human X-linked polymorphic markers and their use in disease gene localisation and identification /." Title page, table of contents and summary only, 1997. http://web4.library.adelaide.edu.au/theses/09PH/09phd6848.pdf.

Full text
APA, Harvard, Vancouver, ISO, and other styles
42

Domingues, Carlos Eduardo Frigério [UNESP]. "Análise de ligação e associação no genoma com gagueira desenvolvimental persistente em famílias do Estado de São Paulo-Brasil." Universidade Estadual Paulista (UNESP), 2013. http://hdl.handle.net/11449/102695.

Full text
Abstract:
Made available in DSpace on 2014-06-11T19:32:14Z (GMT). No. of bitstreams: 0 Previous issue date: 2013-03-21Bitstream added on 2014-06-13T21:03:45Z : No. of bitstreams: 1 domingues_cef_dr_botib.pdf: 8383595 bytes, checksum: 12825237e7433888847a69be2e9616ba (MD5)
A gagueira é uma doença comum que afeta a fluência da fala, caracterizada por repetições ou prolongamentos frequentes de sons, sílaba, palavras, ou por hesitações, ou interrupções no fluxo normal da fala. Trata-se de uma doença que tipicamente surge na infância em crianças com idade entre dois e quatro anos, com taxa de incidência estimada em torno de 5% da população. No entanto devido à elevada taxa de recuperação espontânea, estima-se uma prevalência de 1% na população em geral. Apesar do envolvimento de fatores ambientais, o fator genético é determinante para o desenvolvimento da doença. Algumas evidências que sustentam essa relação são: agregação familial, estudos com gêmeos e envolvendo adoções e, relações de consanguinidade em famílias com diversos afetados. Entretanto, trata-se de uma doença complexa na qual a identificação exata do tipo de herança é difícil de ser determinada uma vez que não seguem as leis de Mendel. Este estudo teve como principal finalidade realizar análises de ligação em 43 famílias brasileiras do Estado de São Paulo, não relacionadas, portadoras de gagueira desenvolvimental persistente a fim de identificar regiões cromossômicas com possíveis genes candidatos; Para as análises de ligação, inicialmente foi realizada a genotipagem de todas as famílias através de chips específicos para essa finalidade contendo 6056 marcadores SNP. Posteriormente, para o refinamento do mapa de ligação foram utilizados marcadores microssatélites polimórficos marcados com fluoróforos e analisados em sequenciador automático capilar. Para as estimativas das frequências alélicas destes marcadores na população brasileira foram utilizados amostras do grupo controle, não relacionadas, previamente selecionadas. Apenas duas famílias (BRPD_47 e BRPD_50) sob o padrão de herança dominante...
Stuttering is a common disease that affects the fluency of speech, and is characterized by frequent repetitions or prolongations of sounds, syllables, or words, or by interruptions in the normal flow of speech. The disorder typically begins in children aged two to four years, and has an estimated incidence rate of around 5% of the population. Due to the high rate of spontaneous recovery, the estimated prevalence of the disorder is 1% in the general population. Despite the involvement of environmental factors, genetic factors have been shown to be critical to the development of the disease. Evidence supporting genetic factors include twin studies, adoption studies, family clusters of stuttering, and consanguineous relations in families with many cases of the disorder. However stuttering is a complex disorder in which the identification of the exact type of inheritance is difficult to determine because it does not follow Mendelian laws. The main goal of this study was to perform a genome-wide linkage analysis in 43 unrelated families from the Brazilian state of São Paulo, which had multiple cases of persistent developmental stuttering, in an effort to identify chromosomal regions containing possible causal genes, Linkage analysis was initially performed by genotyping of all families with chip-based methods that assayed 6056 sNP markers. Subsequent refinement of linkage locations used polymorphic microsatellite markers analyzed by capillary electrophoresis unsing an automated DNA sequencer. Unrelated normal Brazilian samples were used as a control group to estimate the allele frequencies of these markers in this population. Two families (BRPD_47 and BRPD_50) showed significant evidence for linkage in the region of chromosome 10q21 under a dominant inheritance model. Combining these two families produced... (Complete abstract click electronic access below)
APA, Harvard, Vancouver, ISO, and other styles
43

Domingues, Carlos Eduardo Frigério. "Análise de ligação e associação no genoma com gagueira desenvolvimental persistente em famílias do Estado de São Paulo-Brasil /." Botucatu, 2013. http://hdl.handle.net/11449/102695.

Full text
Abstract:
Orientador: Danilo Moretti-Ferreira
Coorientador: Dennis Drayna
Banca: Ana Maria Schiefer
Banca: Maria Isabel de Souza Aranha Melaragno
Banca: Robson Francisco Carvalho
Banca: Ester Silveira Ramos
Resumo: A gagueira é uma doença comum que afeta a fluência da fala, caracterizada por repetições ou prolongamentos frequentes de sons, sílaba, palavras, ou por hesitações, ou interrupções no fluxo normal da fala. Trata-se de uma doença que tipicamente surge na infância em crianças com idade entre dois e quatro anos, com taxa de incidência estimada em torno de 5% da população. No entanto devido à elevada taxa de recuperação espontânea, estima-se uma prevalência de 1% na população em geral. Apesar do envolvimento de fatores ambientais, o fator genético é determinante para o desenvolvimento da doença. Algumas evidências que sustentam essa relação são: agregação familial, estudos com gêmeos e envolvendo adoções e, relações de consanguinidade em famílias com diversos afetados. Entretanto, trata-se de uma doença complexa na qual a identificação exata do tipo de herança é difícil de ser determinada uma vez que não seguem as leis de Mendel. Este estudo teve como principal finalidade realizar análises de ligação em 43 famílias brasileiras do Estado de São Paulo, não relacionadas, portadoras de gagueira desenvolvimental persistente a fim de identificar regiões cromossômicas com possíveis genes candidatos; Para as análises de ligação, inicialmente foi realizada a genotipagem de todas as famílias através de chips específicos para essa finalidade contendo 6056 marcadores SNP. Posteriormente, para o refinamento do mapa de ligação foram utilizados marcadores microssatélites polimórficos marcados com fluoróforos e analisados em sequenciador automático capilar. Para as estimativas das frequências alélicas destes marcadores na população brasileira foram utilizados amostras do grupo controle, não relacionadas, previamente selecionadas. Apenas duas famílias (BRPD_47 e BRPD_50) sob o padrão de herança dominante... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: Stuttering is a common disease that affects the fluency of speech, and is characterized by frequent repetitions or prolongations of sounds, syllables, or words, or by interruptions in the normal flow of speech. The disorder typically begins in children aged two to four years, and has an estimated incidence rate of around 5% of the population. Due to the high rate of spontaneous recovery, the estimated prevalence of the disorder is 1% in the general population. Despite the involvement of environmental factors, genetic factors have been shown to be critical to the development of the disease. Evidence supporting genetic factors include twin studies, adoption studies, family clusters of stuttering, and consanguineous relations in families with many cases of the disorder. However stuttering is a complex disorder in which the identification of the exact type of inheritance is difficult to determine because it does not follow Mendelian laws. The main goal of this study was to perform a genome-wide linkage analysis in 43 unrelated families from the Brazilian state of São Paulo, which had multiple cases of persistent developmental stuttering, in an effort to identify chromosomal regions containing possible causal genes, Linkage analysis was initially performed by genotyping of all families with chip-based methods that assayed 6056 sNP markers. Subsequent refinement of linkage locations used polymorphic microsatellite markers analyzed by capillary electrophoresis unsing an automated DNA sequencer. Unrelated normal Brazilian samples were used as a control group to estimate the allele frequencies of these markers in this population. Two families (BRPD_47 and BRPD_50) showed significant evidence for linkage in the region of chromosome 10q21 under a dominant inheritance model. Combining these two families produced... (Complete abstract click electronic access below)
Doutor
APA, Harvard, Vancouver, ISO, and other styles
44

Koen, Liezl. "Chromosomal aberrations in the Xhosa schizophrenia population." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/1189.

Full text
Abstract:
Thesis (PhD (Psychiatry))--Stellenbosch University, 2008.
BACKGROUND: Schizophrenia is a heterogeneous illness resulting from complex gene-environment interplay. The majority of molecular genetic work done has involved Caucasian populations, with studies in these and Asian populations showing 2-32% of sufferers to have chromosomal aberrations. So far the discovery of a specific susceptibility mechanism or gene still eludes us, but the use of endophenotypes is advocated as a useful tool in this search. No cytogenetic studies of this nature have been reported in any African schizophrenia population. AIM: The aim of the study was to combine genotypic and phenotypic data, collected in a homogenous population in a structured manner, with the hope of characterising an endophenotype that could be used for more accurate identification of individuals with possible chromosomal abnormalities. METHODOLOGY: A structured clinical interview was conducted on 112 Xhosa schizophrenia patients. (Diagnostic Interview for Genetic Studies, including Schedules for the Assessment of Negative and Positive Symptoms.) Blood samples (karyotyping and/or FISH analysis) as well as urine samples (drug screening) were obtained and nine head and facial measurements were performed. Descriptive statistics were compiled with reference to demographic, clinical and morphological variables. Comparisons between mean differences for these variables were made.
APA, Harvard, Vancouver, ISO, and other styles
45

Lopes, Danilo da Silva. "Importância das alterações cromossômicas na etiologia da infertilidade /." Botucatu, 2015. http://hdl.handle.net/11449/132025.

Full text
Abstract:
Orientador: Elaine Sbroggio de Oliveira Rodini
Banca: Adriana Camargo Ferrasi
Banca: Tânia Yoshico Kamiya
Resumo: Introdução: A infertilidade é definida como a incapacidade de um casal obter uma gravidez ou parto de um bebê vivo. Ela não é exclusiva da mulher, mas sim do casal, e os fatores mais comuns associados são de origem genética, como alterações dos cromossomos, incluindo também causas hormonais, anatômicas, infecciosas, imunológicas, entre outras. A definição dos tipos de alterações cromossômicas presentes em um casal com dificuldades reprodutivas é de fundamental importância para sua vida reprodutiva. Objetivo: Verificar a importância das diferentes alterações cromossômicas na etiologia da infertilidade e discutir a indicação do cariótipo nos casos de dificuldades reprodutivas. Metodologia: Estudo retrospectivo de dados de 832 indivíduos, atendidos na Faculdade de Ciências/ UNESP, Bauru, no período de Janeiro de 2005 a Dezembro de 2012, referentes a estudos cromossômicos (cariótipo de sangue periférico e abortos espontâneos) e anamnese. Resultados: Dos 832 casos, 431 foram avaliados através dos cariótipos de sangue periférico e 514 através de seus cariótipos de abortos espontâneos; 113 foram avaliados tanto pelos cariótipos de sangue como pelos cariótipos de seus abortos. A frequência das alterações cromossômicas em sangue periférico foi de 5,6%, e de 32,5 % em abortos espontâneos. Não houve correlação estatística entre ocorrência das alterações cromossômicas, sexo, idade e número de abortos. Conclusões: Na população estudada observou-se que as alterações cromossômicas são importantes na etiologia da infertilidade. As alterações cromossômicas numéricas nos abortos são as mais frequentes; contudo, sua ocorrência pode ser maior devido a possível superestimação dos cariótipos normais pela contaminação de material materno. Para prevenção de malformações congênitas, ambos os membros do casal relacionados a problemas reprodutivos devem realizar o estudo cromossômico
Abstract: Introduction: Infertility is defined as the inability of a couple of getting pregnant or give birth to a live baby. It is not only related to women, but also to the couple, and the most common factors associated are genetic, such as chromosome abnormalities as well as hormonal, anatomical, infectious and immunological causes, among others. The definition of the types of chromosomal abnormalities present in a couple with reproductive difficulties is of fundamental importance to their reproductive life. Objective: To assess the importance of different chromosomal abnormalities in the etiology of infertility and discuss the indication of the karyotype in cases of reproductive difficulties. Methodology: Karyotypes of peripheral blood and miscarriages (Chromosomal studies) and anamnesis of 832 individuals attended at the Faculdade de Ciências/ UNESP, Bauru, from January 2005 to December 2012 were assessed retrospectively. Results: Of the 832 cases, 431 were evaluated by peripheral blood karyotypes and 514 through their karyotypes of miscarriages; 113 were evaluated both by karyotypes of both blood and abortions. The frequency of chromosomal abnormalities in peripheral blood was 5.6%, and 32.5% in spontaneous abortions. There was no statistical correlation between occurrence of chromosomal abnormalities, sex, age and number of abortions. Conclusions: Chromosomal abnormalities are important in the etiology of infertility within the population studied. The numerical chromosomal abnormalities in abortions were the most common; however, its occurrence may be higher due to possible overestimation of normal karyotypes by contamination of maternal material. Aiming the prevention of congenital malformations, both couple members presenting reproductive problems should perform a chromosome study
Mestre
APA, Harvard, Vancouver, ISO, and other styles
46

Lopes, Danilo da Silva [UNESP]. "Importância das alterações cromossômicas na etiologia da infertilidade." Universidade Estadual Paulista (UNESP), 2015. http://hdl.handle.net/11449/132025.

Full text
Abstract:
Made available in DSpace on 2015-12-10T14:23:07Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-02-25. Added 1 bitstream(s) on 2015-12-10T14:29:22Z : No. of bitstreams: 1 000847907.pdf: 435955 bytes, checksum: 28562835fdb8912e96dfb94f7a160314 (MD5)
Introdução: A infertilidade é definida como a incapacidade de um casal obter uma gravidez ou parto de um bebê vivo. Ela não é exclusiva da mulher, mas sim do casal, e os fatores mais comuns associados são de origem genética, como alterações dos cromossomos, incluindo também causas hormonais, anatômicas, infecciosas, imunológicas, entre outras. A definição dos tipos de alterações cromossômicas presentes em um casal com dificuldades reprodutivas é de fundamental importância para sua vida reprodutiva. Objetivo: Verificar a importância das diferentes alterações cromossômicas na etiologia da infertilidade e discutir a indicação do cariótipo nos casos de dificuldades reprodutivas. Metodologia: Estudo retrospectivo de dados de 832 indivíduos, atendidos na Faculdade de Ciências/ UNESP, Bauru, no período de Janeiro de 2005 a Dezembro de 2012, referentes a estudos cromossômicos (cariótipo de sangue periférico e abortos espontâneos) e anamnese. Resultados: Dos 832 casos, 431 foram avaliados através dos cariótipos de sangue periférico e 514 através de seus cariótipos de abortos espontâneos; 113 foram avaliados tanto pelos cariótipos de sangue como pelos cariótipos de seus abortos. A frequência das alterações cromossômicas em sangue periférico foi de 5,6%, e de 32,5 % em abortos espontâneos. Não houve correlação estatística entre ocorrência das alterações cromossômicas, sexo, idade e número de abortos. Conclusões: Na população estudada observou-se que as alterações cromossômicas são importantes na etiologia da infertilidade. As alterações cromossômicas numéricas nos abortos são as mais frequentes; contudo, sua ocorrência pode ser maior devido a possível superestimação dos cariótipos normais pela contaminação de material materno. Para prevenção de malformações congênitas, ambos os membros do casal relacionados a problemas reprodutivos devem realizar o estudo cromossômico
Introduction: Infertility is defined as the inability of a couple of getting pregnant or give birth to a live baby. It is not only related to women, but also to the couple, and the most common factors associated are genetic, such as chromosome abnormalities as well as hormonal, anatomical, infectious and immunological causes, among others. The definition of the types of chromosomal abnormalities present in a couple with reproductive difficulties is of fundamental importance to their reproductive life. Objective: To assess the importance of different chromosomal abnormalities in the etiology of infertility and discuss the indication of the karyotype in cases of reproductive difficulties. Methodology: Karyotypes of peripheral blood and miscarriages (Chromosomal studies) and anamnesis of 832 individuals attended at the Faculdade de Ciências/ UNESP, Bauru, from January 2005 to December 2012 were assessed retrospectively. Results: Of the 832 cases, 431 were evaluated by peripheral blood karyotypes and 514 through their karyotypes of miscarriages; 113 were evaluated both by karyotypes of both blood and abortions. The frequency of chromosomal abnormalities in peripheral blood was 5.6%, and 32.5% in spontaneous abortions. There was no statistical correlation between occurrence of chromosomal abnormalities, sex, age and number of abortions. Conclusions: Chromosomal abnormalities are important in the etiology of infertility within the population studied. The numerical chromosomal abnormalities in abortions were the most common; however, its occurrence may be higher due to possible overestimation of normal karyotypes by contamination of maternal material. Aiming the prevention of congenital malformations, both couple members presenting reproductive problems should perform a chromosome study
APA, Harvard, Vancouver, ISO, and other styles
47

Wong, Chi-wai, and 黃志偉. "High resolution mapping of loss of heterozygosity and chromosomal aberrations using oligonucleotide single nucleotide polymorphismgenotyping arrays in colorectal adenoma to carcinoma progression." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B3871923X.

Full text
APA, Harvard, Vancouver, ISO, and other styles
48

Kile, Joanna L. (Joanna Le). "The Reproductive Consequences of Carriers of Methylenebisacrylamide-Induced Balanced Reciprocal Translocations in Mus Musculus." Thesis, University of North Texas, 1989. https://digital.library.unt.edu/ark:/67531/metadc500402/.

Full text
Abstract:
N,N'-methylenebisacrylamide (MBA) was studied because of its effectiveness in inducing heritable translocations in germ cells of male mice. The health impact of translocations was studied through anatomical analysis of the progeny of semisterile translocation carriers. As expected, the semisterility of translocation carriers resulted primarily from embryonic death during periimplantation stages due to unbalanced chromosome sperm segregants. Among conceptuses that survived to mid- and late-gestation stages, there was an increased incidence of developmental anomalies including fetal death and phenotypic defects. These abnormalities are associated with unbalanced chromosome complements that allow survival to the later stages of development.
APA, Harvard, Vancouver, ISO, and other styles
49

Thomson, Allyson K. "A comparative investigation of longevity and morbidity in Angelman syndrome and Prader-Willi syndrome." Thesis, Edith Cowan University, Research Online, Perth, Western Australia, 2005. https://ro.ecu.edu.au/theses/623.

Full text
Abstract:
The present study examined the life histories of individuals In Western Australia with a diagnosis of Angelman or Prader-Willi syndrome. Angelman and Prader_Willi syndrome, are phenoypically diverse disorders both of which result from the failure of imprinting at the chrl5qll-q13 locus. In most cases, loss of the maternal imprint from the region leads to Angelman syndrome, while lack of a paternal pattern results in Prader-WilIi syndrome. Between 4-14% of Angelman cases have a mutation in a single gene, UBE3A.
APA, Harvard, Vancouver, ISO, and other styles
50

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!

To the bibliography