Дисертації: "Mapping human chromosomes"

1

Laval, S. H. "Molecular analysis of mammalian sex chromosomes." Thesis, University of Oxford, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302954.

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2

Kedra, Darek. "Characterization of candidate disease genes from human chromosomes 11g13 and 22q /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3792-3/.

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3

Baker, Elizabeth Gay. "The mapping of human chromosomes by fluorescence in situ hybridization /." Title page, contents and summary only, 1996. http://web4.library.adelaide.edu.au/theses/09MSM/09msmb167.pdf.

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Thesis (M. Med. Sc.)--University of Adelaide, Dept. of Pediatrics and Dept. of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, 1996.
Copies of author's previously published articles inserted. Includes bibliographical references (leaves 122-142).

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4

Stephens, Sarah H. "Fine mapping of the chromosome 15q13-14 schizophrenia linkage region /." Connect to full text via ProQuest. Limited to UCD Anschutz Medical Campus, 2008.

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Thesis (Ph.D. in Human Medical Genetics) -- University of Colorado Denver, 2008.
Typescript. Includes bibliographical references (leaves 112-128). Free to UCD Anschutz Medical Campus. Online version available via ProQuest Digital Dissertations;

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5

Åkesson, Eva. "Genetic mapping and association analysis in multiple sclerosis /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-174-1/.

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6

Wittwer, Pia Ethena. "Physical and genetical investigation of the Xp11.3 region on the short arm of the human X-chromosome." Thesis, University of the Western Cape, 2004. http://etd.uwc.ac.za/index.php?module=etd&amp.

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The pattern of inactivation in the DXS8237E-UBE1-PCTK1 region is of particular interest, since the mechanisms of X chromosome inactivation and the escape from inactivation are, as yet, not fully understood. The inactivation status of the DXS8237E and PCTKl gene differ: the first undergoes normal inactivation and the second escapes this process. The status of the UBEl gene has been controversial, although it is widely excepted that it does escape X chromosome inactivation. Physical mapping of the region employing YACs and subsequently P ACs has been undertaken, but was restricted in scope by the high frequency of rearrangements occurring. DNA sequences between DXS8237E, UBE1, PCTKl and the distal gene, UHX1, have been investigated with regard to LINEI elements, which are thought to playa role in X-inactivation. The results obtained strongly suggest a link between LINE1 elements and X chromosome inactivation. Sequence analysis results also contributed to the understanding of difficulties with restriction mapping of the region. Further, this work includes the first reported establishment of the UBEl exonintron boundaries. Additionally, genomic sequence analysis showed that only 46kb separate DXS8237E from UHX1, which confirms that this region is extremely gene rich.

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7

Sundholm, James, and n/a. "Analysis of Specific Migraine Candidate Genes Mapping to Human Chromosome 1." Griffith University. School of Health Science, 2003. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20030829.153348.

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Migraine, comprised of migraine with aura (MA) and migraine without aura (MO), is a painful neurovascular disease, affecting approximately 16% of the general population. It is characterised by a wide variety of symptoms including headache, nausea and vomiting, and photo- and phonophobia. The disorder is complex involving not only multiple genes, but also specific environmental factors, which can induce attacks in genetically predisposed individuals. Hyperhomocysteinaemia is a known risk factor for cerebrovascular, peripheral vascular and coronary heart disease. The Methylenetetrahydrofolate Reductase (MTHFR) enzyme is involved in homocysteine metabolism. Furthermore, it has been reported that a homozygous mutation (677C to T; Ala to Val) in the 5,10-MTHFR gene is associated with an elevation in plasma homocysteine levels (Frosst et al., 1995). This common mutation in the MTHFR gene has recently been associated with migraine with aura in a Japanese cohort (Kowa et al., 2000). The present study was designed to determine the prevalence of the MTHFR C677T mutation in Australian patients with migraine and to determine whether this mutation is associated with the disease in Caucasians. A large case-control study, consisting of 270 patients with migraine (167 with aura and 103 without aura), and 270 normal matched controls was investigated. Genotypic results indicated that the prevalence of the homozygous (T/T) genotype in migraine sufferers (15%) was higher than that of controls (9%) (P = 0.084). Furthermore, the frequency of the mutant (T/T) genotype in individuals with MA (19%) was significantly higher than in controls (9%) (P = 0.006). Interestingly, the risk of MA was ~2.5-fold higher in suffers possessing the homozygous variant (OR = 2.52, CI: 1.42 - 4.47, P = 0.0012). To confirm the MTHFR allelic association with MA, family-based tests were performed in an independent pedigrees group, where only those with MA were considered affected. Results from both the Pedigree Disequilibrium Test (PDT) and Family-Based Association Test (FBAT) analysis revealed slight, although not significant (PDT test, P = 132; and FBAT test, P = 0.390), over-transmission of the mutant allele (T) from parents to affected offspring. However, despite the MTHFR variant having a high heterozygosity (0.48), there were a limited number of informative transmissions for the MTHFR variant in the pedigree group resulting in reduced power for these tests. In conclusion, our results support the trends reported in the Japanese migraine study and suggest that the homozygous 677T gene variant causing mild hyperhomocysteinaemia, is a genetic risk factor for migraine, and indicate that further studies investigating the role of this gene are warranted. Mutations in various ion channel genes are responsible for neurovascular and other neurological disorders. Inherited ion channel mutations or "channelopathies" are increasingly found to be the cause of various neurological disorders in humans. Wittekindt and colleagues (1998) reported that the calcium-activated potassium channel (hKCa3) gene is a good candidate for schizophrenia and bipolar disorder (BD), as well as for other neurological disorders such as migraine. The hKCa3 gene is a neuronal small conductance calcium-activated potassium channel, which contains a polyglutamine tract, encoded by a polymorphic CAG repeat in the gene. The hKCa3 gene encodes a protein of 731 amino acids containing two adjacent polyglutamine sequences in its N-terminal domain separated by 25 amino acids. The C-terminal polyglutamine sequence is highly polymorphic in length (Austin et al., 1999). hKCa3 plays a critical role in determining the firing pattern of neurons via the generation of slow after-polarization pulses and the regulation of intracellular calcium channels (Kohler et al., 1996). Three distinct mutations in the a1 calcium channel gene have been shown to cause SCA-6, episodic ataxia-2 and familial hemiplegic migraine (FHM) (Ophoff et al., 1996). The hKCa3 gene contains a highly polymorphic CAG repeat that was initially mapped (Chandy et al., 1997) to a schizophrenia locus on chromosome 22 (Pulver et al., 1994). Recently Austin et al (1999) re-mapped hKCa3 and found it to reside on chromosome 1q21, a region that has been linked to FHM (Austin et al., 1999), a rare subtype of MA (Ducros et al., 1997; Gardner et al., 1998), and a region recently showing genetic linkage to typical migraine (Lea et al., 2002). The hKCa3 polymorphism results in small variations in polyglutamine number, similar to those that occur in the calcium channel a1a subunit gene (CACNA1A), which is encoded by CAG expansions and thought to cause Spinocerebellar Ataxia Type 6 via loss of channel function (Austin et al., 1999). Given the recent linkage of FHM to the region of chromosome 1q21, to which hKCa3 resides, and also linkage of typical migraine to this region, a large case-control study investigating this hKCa3 CAG marker and consisting of 270 migraine and 270 stringently matched healthy controls was undertaken. Our results indicated that there was no statistically significant difference in allele distributions for this marker between migraine and non-migraine patients (P >0.05). No significant difference in the allelic distribution was observed in the MA or MO groups when compared to controls (P >0.05) and there was no significant difference in CAG repeat length distribution between the migraine group and controls (P = 0.92), or between the MA and MO groups (P = 0.72) collectively. Hence, the CAG repeat in this gene does not show expansion in migraine. Overall, our results provide no genetic evidence to suggest that the hKCa3 CAG repeat polymorphism is involved in migraine aetiology in Australian Caucasians. Thus the involvement of the hKCa3 gene in migraine is not likely, although the hKCa3 gene remains an important candidate for other neurological disorders that may be linked to the 1q21.3 chromosomal region.

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8

Holm, Sofia. "Molecular genetic studies of psoriasis susceptibility in 6p21.3 /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-225-X.

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9

Liu, Jian. "Deletion mapping of human 3P in major epithelial malignancies and fine localization of candidate tumor suppressor genes /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-577-8/.

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10

Christoffels, Alan. "Generation of a human gene index and its application to disease candidacy." Thesis, University of the Western Cape, 2001. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_2413_1185436829.

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With easy access to technology to generate expressed sequence tags (ESTs), several groups have sequenced from thousands to several thousands of ESTs. These ESTs benefit from consolidation and organization to deliver significant biological value. A number of EST projects are underway to extract maximum value from fragmented EST resources by constructing gene indices, where all transcripts are partitioned into index classes such that transcripts are put into the same index class if they represent the same gene. Therefore a gene index should ideally represent a non-redundant set of transcripts. Indeed, most gene indices aim to reconstruct the gene complement of a genome and their technological developments are directed at achieving this goal. The South African National Bioinformatics Institute (SANBI), on the other hand, embarked on the development of the sequence alignment and consensus knowledgebase (STACK) database that focused on the detection and visualisation of transcript variation in the context of developmental and pathological states, using all publicly available ESTs. Preliminary work on the STACK project employed an approach of partitioning the EST data into arbitrarily chosen tissue categories as a means of reducing the EST sequences to manageable sizes for subsequent processing. The tissue partitioning provided the template material for developing error-checking tools to analyse the information embedded in the error-laden EST sequences. However, tissue partitioning increases redundancy in the sequence data because one gene can be expressed in multiple tissues, with the result that multiple tissue partitioned transcripts will correspond to the same gene.

Therefore, the sequence data represented by each tissue category had to be merged in order to obtain a comprehensive view of expressed transcript variation across all available tissues. The need to consolidate all EST information provided the impetus for developing a STACK human gene index, also referred to as a whole-body index. In this dissertation, I report on the development of a STACK human gene index represented by consensus transcripts where all constituent ESTs sample single or multiple tissues in order to provide the correct development and pathological context for investigating sequence variation. Furthermore, the availability of a human gene index is assessed as a diseasecandidate gene discovery resource. A feasible approach to construction of a whole-body index required the ability to process error-prone EST data in excess of one million sequences (1,198,607 ESTs as of December 1998). In the absence of new clustering algorithms, at that time, we successfully ported D2_CLUSTER, an EST clustering algorithm, to the high performance shared multiprocessor machine, Origin2000. Improvements to the parallelised version of D2_CLUSTER included: (i) ability to cluster sequences on as many as 126 processors. For example, 462000 ESTs were clustered in 31 hours on 126 R10000 MHz processors, Origin2000. (ii) enhanced memory management that allowed for clustering of mRNA sequences as long as 83000 base pairs. (iii) ability to have the input sequence data accessible to all processors, allowing rapid access to the sequences. (iv) a restart module that allowed a job to be restarted if it was interrupted. The successful enhancements to the parallelised version of D2_CLUSTER, as listed above, allowed for the processing of EST datasets in excess of 1 million sequences. An hierarchical approach was adopted where 1,198,607 million ESTs from GenBank release 110 (October 1998) were partitioned into "
tissue bins"
and each tissue bin was processed through a pipeline that included masking for contaminants, clustering, assembly, assembly analysis and consensus generation. A total of 478,707 consensus transcripts were generated for all the tissue categories and these sequences served as the input data for the generation of the wholebody index sequences. The clustering of all tissue-derived consensus transcripts was followed by the collapse of each consensus sequence to its individual ESTs prior to assembly and whole-body index consensus sequence generation. The hierarchical approach demonstrated a consolidation of the input EST data from 1,198607 ESTs to 69,158 multi-sequence clusters and 162,439 singletons (or individual ESTs). Chromosomal locations were added to 25,793 whole-body index sequences through assignment of genetic markers such as radiation hybrid markers and gé
né
thon markers. The whole-body index sequences were made available to the research community through a sequence-based search engine (http://ziggy.sanbi.ac.za/~alan/researchINDEX.html).

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11

Holm, Pernilla. "Genetic studies of susceptibility to diabetes mellitus with emphasis on type 1 diabetes /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-527-1/.

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12

Kholodnyuk, Irina. "A microcell hybrid based elimination test to identify human chromosome 3 regions that antagonize tumor growth /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-581-6/.

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13

Köhn, Linda. "Genetic mapping of retinal degenerations in Northern Sweden." Umeå : Umeå university, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-27004.

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14

Brinkman-Mills, Polly. "Transcriptional mapping in human chromosome 22q11.2." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0015/MQ47011.pdf.

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15

Apostolou, Sinoula. "Physical mapping of human chromosome 16." Title page, contents and abstract only, 1997. http://web4.library.adelaide.edu.au/theses/09PH/09pha645.pdf.

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16

Creavin, Treasa Agnes Della Geraldine. "Transcriptional mapping of human chromosome 16p12.3-p12.2." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321891.

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17

Hinkley, Craig S. (Craig Steven). "Gene Dosage Study on Human Chromosome 22." Thesis, North Texas State University, 1986. https://digital.library.unt.edu/ark:/67531/metadc500617/.

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A gene dosage study was conducted on a rare complete trisomy 22 human fibroblast cell line utilizing three lysosomal enzymes, ∝-iduronidase, ∝-galactosidase B, and arylsulfatase A, whose genes are located on chromosome 22 and two control enzymes, ,β-hexosaminidase A and -- fucosidase, with genes not on chromosome 22. A gene dosage effect was clearly demonstrated for an early passage number of the fibroblasts; however, later passage numbers gave inconclusive results. This study suggests that gene dosage studies must be carefully designed to be conducted only on early, matched passage number cells. ∝-fucosidase gave anomalous results most likely due to pleiotropic effects. The present gene dosage study confirmed the trisomic nature of the cell line studied and suggests that this type of study may be a useful diagnostic tool for small deletions, additions, or unbalanced translocations.

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18

Janunger, Tomas. "The genetic contribution to stroke in northern Sweden." Doctoral thesis, Umeå : Umeå university, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-31929.

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19

Wixon, Joanne. "Physical and transcriptional mapping in human chromosome band 6p23." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363758.

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20

Fratini, Antonio. "Fragile sites on human chromosome 16 : a linkage analysis study /." Title page, table of contents and summary only, 1988. http://web4.library.adelaide.edu.au/theses/09PH/09phf844.pdf.

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21

Maslen, G. Ll. "Molecular analysis of the mammalian X-chromosome." Thesis, University of Oxford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.260723.

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22

Priestley, Matthew David. "Detailed mapping of a congenital heart disease gene in chromosome 3p25." Thesis, University of Birmingham, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.270058.

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23

Wong, Chi Cheung Andrew. "Transcriptional mapping in a terminal microdeletion of human chromosome 22q." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp03/NQ34859.pdf.

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24

Howell, Gareth Rhys. "Physical, transcriptional and comparative mapping on the human X chromosome." Thesis, Open University, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.394787.

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25

Daly, Maria Catherine. "Chromosome 3 deletion mapping in human small cell lung cancer." Thesis, University of Cambridge, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.304095.

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26

Bryant, Stephen Paul. "Pedigree analysis and gene mapping." Thesis, Open University, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.390811.

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27

Stafford, Amanda Newland. "Physical mapping within human chromosome 11q12-q13 including the atopy locus." Thesis, University of Oxford, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.239248.

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28

Williams, Gareth Owen. "Mapping studies of the centromeric region of the human Y chromosome." Thesis, University of Oxford, 1998. http://ora.ox.ac.uk/objects/uuid:c471a22f-e52b-452a-8714-bfcd9610da44.

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Mapping studies of the centromeric region of the human Y chromosome Construction of a map of a human centromeric region is very important in order to understand the organisation of this essential part of the chromosome. A YAC contig map has been assembled of the pericentric 10 Mb of the human Y chromosome, giving coverage of Yp from the large X-Y homologous region through to the alphoid satellite of the centromere, and from the alphoid DNA to the proximal unique sequences on Yq. The Yp map has one remaining gap between TSPY1 and the AMELY region, while two gaps separate the satellite region on Yq from the other two contigs. After constructing the map, the known genes were localised to the region. One Yq gene, DFFRY, was discounted as a potential anti-Turner syndrome gene by analysis of rearranged Y chromosomes. Detection of a block of duplicated sequence on Yp led to the confirmation of the existence of an inversion polymorphism, which was then found to be correlated with a major subclass of sex-reversed individuals, who have X-Y chromosomal breakpoints within the inverted region. These results not only give a far more extensive and detailed map of this region than before, but also show that understanding the organisation of the region has important consequences for a number of genetic disorders.

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29

Greenham, Jaimie Alexanda. "The identification and integration of transcripts mapping to human chromosome 16p12.2." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286479.

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30

Gillett, Godfrey Tregelles. "Use of irradiation hybrids in gene mapping on human chromosome II." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.322187.

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31

Groet, Jurgen. "Physical mapping and identification of novel genes in human chromosome 21q11." Thesis, University College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.312003.

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32

Evans, Wayne. "Physical and transcriptional mapping of Xq22.3 on the human X chromosome." Thesis, King's College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.322079.

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33

Plummer, Alisa C. "Transcriptional mapping within a 1.7 megabase region of human chromosome 17Q21." DigitalCommons@Robert W. Woodruff Library, Atlanta University Center, 1999. http://digitalcommons.auctr.edu/dissertations/3019.

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Exon amplification is a method used to identify regions of DNA that contain transcribed sequences. The large cloning capacity of yeast artificial chromosome (YAC) systems and the inability to isolate large intact DNA from YACs introduce limitations to the exon amplification technique. The feasibility of exon amplification from a mega-YAC clone 2001C6 (CEPH) has been analyzed as a means to isolate transcribed sequences and has been used to produce 10 putative exon sequences from human chromosome 17q21. Six of the sequences showed homology to sequences that were previously published in the GenBANK database. Three of the sequences showed no homology, thereby indicating the isolation of putatively novel sequences. The sequences were radiolabeled and used as hybridization probes on a multiple tissue RNA dot blot. This blot contains RNA isolated from 50 human tissues. Clone E5 produced hybridization signals in fetal liver, fetal spleen and placenta. Clone F12 produced hybridization signals in fetal liver, fetal spleen, placenta and bone marrow. Clone G12 produced hybridization signals in all of the RNAs, indicating a pattern of expression similar to that of a housekeeping gene. These findings contribute to the enhancement of a high density transcriptional map within the q21-q22 region of human chromosome 17.

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34

Rebello, Manuel Teixeira. "Genetic and physical mapping of the short arm of human chromosome 9." Thesis, University College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.267982.

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35

Hassock, Sheila Ruth. "Physical and transcriptional mapping in the distal Xq28 region of the human X chromosome." Thesis, King's College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.312021.

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36

Lam, Tai-wai. "Structural organization, transcriptional regulation and chromosomal localization of the human secretin gene." Hong Kong : University of Hong Kong, 2001. http://sunzi.lib.hku.hk/hkuto/record.jsp?B23316652.

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37

Hammarsund, Marianne. "Genetic changes in lymphoid leukemia /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-628-5841-6/.

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38

Shutler, Gary G. "Genetic and physical mapping of the myotonic dystrophy locus on human chromosome 19q13.3." Thesis, University of Ottawa (Canada), 1993. http://hdl.handle.net/10393/6793.

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The cloning of the myotonic dystrophy (DM) was accomplished in a three part research plan: (1) the characterization of the DNA excision repair cross complementation (ERCC1) gene region by genetic and physical mapping to determine the location of the DM gene relative to this locus, (2) the undertaking of a chromosome walk from the ERCC1 region toward the DM gene to define a minimal area that is to contain the DM locus, and (3) characterization of the essential region containing the DM locus for CpG islands and DM associated abnormalities. Further work done in our laboratory and by others have shown the DM associated allelic expansion to be due to the amplification of a trinucleotide repeat, CTG. This repeat was mapped to the 3$\sp\prime$ untranslated region of a gene which based on sequence homology comparisons encodes a putative serine-threonine protein kinase. This is not unlike the allelic expansion found in fragile X syndrome that is due to an amplification of a CGG trinucleotide repeat mapping to the 5$\sp\prime$ untranslated region of a gene designated FMR-1. The size of the CTG repeats ascertained in 124 normal chromosomes was found to range from 5 to 30 with repeat numbers of 5 and 13 the most common. The repeat numbers in DM chromosomes was found to vary from a minimum of about 50 to over 2000. Only two out of 98 DM families did not show allelic expansion using Southern blot analysis or PCR protocols to ascertain the repeat numbers. These cases either have other mutations at or near this locus or they have another clinically similar disorder mapping elsewhere in the genome. In summary, it is evident from work presented in this thesis that the DM locus has been cloned and that the DM mutation has been identified. (Abstract shortened by UMI.)

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39

Mensah, Afua Adjeiwaa. "Mapping human chromosome 21 gene dose effects on tumour suppression and neural differentiation." Thesis, Queen Mary, University of London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.414704.

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40

Kirchgessner, Cordula U. "The Human Synapsin I Gene: Linkage Mapping on the X Chromosome: A Dissertation." eScholarship@UMMS, 1991. http://escholarship.umassmed.edu/gsbs_diss/241.

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In this dissertation I describe the isolation and characterization of genomic clones for the human synapsin I gene, the establishment of a linkage map for the human synapsin I gene locus, and studies of the possible involvement of this gene in neurological disease. Synapsin I is a neuron-specific phosphoprotein which is concentrated at the presynaptic terminal. Evidence suggests that it plays a fundamental role in the regulation of neurotransmitter release. Altogether 27,500 bp of the human synapsin I gene have been isolated, and the gene structure has been partially determined. DNA sequence comparisons between human and rat genes show a high degree of conservation. Sequenced exons display an 87% identity to each other. The synapsin I genomic clones were employed in the search for a polymorphic marker. A compound (AC)n repeat located 1000 base pairs downstream from the human synapsin I gene and within the last intron of the A-raf-1 gene has been identified. DNA database comparisons of the sequences surrounding the repeat indicate that the synapsin I gene and the A-raf-1 gene lie immediately adjacent to each other, in opposite orientation. Polymerase chain reaction amplification of this synapsin I / A-raf-1 associated repeat using total genomic DNA from members of the 40 reference pedigree families of the Centre d'Etude du Polymorphisme Humaine showed it to be highly polymorphic, with a polymorphic information content value of 0.84 and a minimum of eight alleles. Because the synapsin I gene had been mapped previously to the short arm of the human X chromosome at Xp11.2, linkage analysis was performed with markers on the proximal short arm of the X chromosome. The most likely gene order is: DXS7 - SYN/ARAF1 - TIMP - DXS255 - DXS146 with a relative probability of 5 x 108 compared with the next most likely order. The SynI/Araf marker was next utilized in a linkage study aimed at establishing a more accurate placement of the genetic locus responsible for the ocular disorder Congenital stationary night blindness, which had been mapped previously close to DXS7. Our results confirm this prior localization and also exclude any placement proximal to the SYN/ARAF1 locus. Finally, the inheritance of the different alleles of the SynI/Araf marker in three families with Rett syndrome, a severe neurodegenerative disorder, which has been assigned to the X chromosome, was studied. In at least one of the families in which two half sisters with the same mother suffer from the disease, the inheritance of Rett syndrome was discordant with the inheritance of the same allele for the SynI/Araf marker. Thus, this highly informative repeat has proven already effective in the study of X-linked diseases and should serve as a valuable marker for disease loci mapped to the Xp11 region.

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41

Lioumi, Maria. "Physical mapping of human chromosomal band Iq21 and characterisation of new genes." Thesis, King's College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.392438.

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42

林大偉 and Tai-wai Lam. "Structural organization, transcriptional regulation and chromosomal localization of the human secretin gene." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31224593.

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43

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.

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44

Flomen, Rachel Helena. "Gene analysis and physical mapping in the Xq27.3-Xq28 region of the human X chromosome." Thesis, King's College London (University of London), 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.336342.

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45

Lowe, Yvonne. "Linkage mapping of a familial MeÌnieÌ€re disease locus to a human chromosome 14q21.2-q21.3." Thesis, University of Glasgow, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.443282.

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46

Hornigold, James Nicholls Andrew. "Physical mapping using Hinfl cosmid fingerprinting : its application to the human Y chromosome and to 9q34." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.300167.

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47

Philippe, Christophe. "Cartographie physique du chromosome X humain : 1) contribution à la cartographie physique de la région q13-q22 du chromosome X humain : 2) analyse de deux cas de pathologies récessives liées à l'X chez des femmes porteuses de translocation (X ; Autosome) équilibrées." Vandoeuvre-les-Nancy, INPL, 1994. http://docnum.univ-lorraine.fr/public/INPL_T_1994_PHILIPPE_C.pdf.

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Ce travail contribue à l'établissement de la carte physique de la région q13-q22 du chromosome X humain. Nous avons rassemblé huit translocations X ; Autosomes (t(X;A)) équilibrées chez des femmes présentant des troubles de la fonction ovarienne. Dans une première partie, nous définissons huit nouveaux points de cassure dans la région Xq13-q22. Ces balises sont tout d'abord isolées par hybridation somatique interspécifique à partir des t(X;A) ; elles sont ensuite localisées par rapport aux marqueurs de la région proximale des bras longs du chromosome X humain. En regroupant nos t(X;A) avec des délétions de la région Xq21 publiées précédemment, nous proposons un panel de réarrangements qui subdivise la région Xq21 en 21 segments, soit plus d'une borne par mégabase d'adn. Cette collection constitue donc un bon canevas pour la construction d'une carte physique, génétique et fonctionnelle détaillée de la région q21 du chromosome X humain. La deuxième partie de ce travail consiste en la caractérisation moléculaire fine des points de cassure sur l'X pour les deux t(X;A) présentées dans cette étude qui sont associées avec des pathologies récessives liées à l'X. D'une part, chez la patiente TDo, atteinte de choroïdérémie et porteuse d'une t(X;7)(q21;p12), nous confirmons la localisation du point de cassure sur l'X dans le gène CHM, entre le troisième et le quatrième exon. D'autre part, le point de cassure sur le chromosome X chez la patiente PMI, porteuse d'une t(X;13)(q13;q31) en association avec un retard mental, a permis le clonage positionnel d'un gène qui pourrait être un bon candidat pour l'un des nombreux retards mentaux non spécifiques liés à l'X que compte la région proximale des bras longs du chromosome X humain

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48

Footz, Tim. "Mapping of the region of mouse chromosome 6 homologous to the human cat eye syndrome critical region." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0020/MQ47030.pdf.

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49

Leversha, Margaret Anne. "Cytological estimations of molecular genetic difference : applications and implications of fluorescence in situ hybridisation mapping in the long arm of human chromosome 9." Thesis, University of Cambridge, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.337902.

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50

Brown, G. M. "Genetic mapping on human chromosome 9 by analysis of meiotic recombination in single sperm using polymorphic microsatellite markers." Thesis, University of Cambridge, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.596982.

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Flow-stored single sperm were amplified by polymerase chain reaction (PCR) to compare the genetic recombination of 4 individuals using a series of polymorphic microsatellite markers across human chromosome 9q31-q34.3. Firstly, a method was developed to circumvent the problem of marker scarcity in certain areas of the genome. The method enriched a chromosome 9-specific plasmid library for [CA]_n microsatellite sequences which could then be investigated for heterozygosity and use as genetic markers. 64% of [CA]_n sequences identified after the enrichment procedure were found to contain a tract of at least 12 repeat units; the size at which such tandem repeats are thought to have the potential to be polymorphic. 3 clones were selected and characterised. One clone was found to have an estimated heterozygosity of 82% and was designated D9S749. Sperm typing was performed using a protocol involving whole genome amplification using[N]₁₅-mers and single step multiplex of sets of markers on 2 normal donors for a series of markers spanning 9q31-q34.3. Linkage analysis was performed with CRIMAP, adapted for sperm typing, and the sperm typing program SPERM. The marker order found for 1 donor was cen-D9S109-D9S59-D9S170-D9S154-D9S315-ASS-D9S149-D9S67-ter. This data was in agreement with previously published data but the ordering of D9S170 centromeric to D9S154 had not been previously reported. The same order was found for the marker set of the second donor. Some heterogeneity was found in the % recombination between these 2 individuals with significant differences in recombination frequencies between some markers.

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