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Genetic and physical mapping of the short arm of human chromosome 9

Rebello, Manuel Teixeira; (1997) Genetic and physical mapping of the short arm of human chromosome 9. Doctoral thesis (Ph.D), UCL (University College London). Green open access

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Genetic and physical mapping of human chromosome 9, with particular reference to the distal short arm, have been undertaken to improve the state of knowledge and resources for this region of the human genome. 32 markers have been analysed in some or all of the CEPH families and after extensive error correction the genetic map of chromosome 9 contains 278 objects and has a length of 186.2cM in females and 134.0cM in males. All recombination events in chromosome 9 in 32 of the CEPH families have been identified, providing a rapid way of placing new markers by "breakpoint mapping". The distribution of meiotic breakpoints in males showed a great excess of recombinations in the distal regions of the chromosome in agreement with a previously published chiasma map, and shows complete interference on the short arm. In contrast the maternal distribution of breakpoints showed some preference for the proximal short arm but was in general apparently random. The female genetic map was found to be in better agreement with the radiation hybrid map than the male map. A cosmid library was screened with a sub-telomeric repeat and a cosmid contig containing the 9p sub-telomeric region has been created. Physical clones for genetic markers linked to the telomere have been collected and tested by fluorescent in situ hybridisation (FISH) on a panel of translocation cell lines that divide the short arm into three regions. FISH on combed DNA has been used to demonstrate the linkage of the clones for the most distal genetic markers to the sub telomeric contig. A comprehensive map of chromosome 9 has been prepared which combines published data and improvements made to the genetic and physical map. This map is available from the Galton laboratory. A number of new cloned resources for the sub telomeric region of chromosome 9 have been assembled and are available to the chromosome 9 community. The data gathered in the course of this project are available from the Galton laboratory in electronic form via ACEDB or SIGMA.

Type: Thesis (Doctoral)
Qualification: Ph.D
Title: Genetic and physical mapping of the short arm of human chromosome 9
Open access status: An open access version is available from UCL Discovery
Language: English
Additional information: Thesis digitised by ProQuest.
Keywords: Biological sciences; Chromosome mapping
URI: https://discovery.ucl.ac.uk/id/eprint/10099953
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