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Genetic and physical mapping in the terminal region of human chromosome 1p

Xenophontos, Stavroulla Louca; (1994) Genetic and physical mapping in the terminal region of human chromosome 1p. Doctoral thesis (Ph.D), UCL (University College London). Green open access

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Markers which lie in 1p36 have been ordered by different physical mapping techniques. Somatic cell hybrids with chromosome 1 translocations were analysed by the polymerase chain reaction and Southern hybridization resulting in the assignment of markers with respect to the translocation breakpoints. Dual colour fluorescence in situ hybridization (FISH) and single colour FISH allowed the accurate determination of the order of markers from 1pter to the centromere. Pulsed field gel electrophoresis (PFGE) was also applied to study the physical relationship between loci in 1p36. Long range maps constructed around markers indicated that none of the loci analysed were physically linked. Variable methylation patterns were observed around the PGD locus in cell lines and peripheral white blood cell DNA. A Yeast artificial chromosome was isolated for one of these markers (p58) and will be an important nucleation point in YAC contig construction in the region. In addition this has been mapped by FISH experiments in a region commonly lost in tumours of neural crest origin and is a candidate gene whose inactivity contributes to these anomalies. Partial exon-intron organization was determined at the PGD locus accompanied by a detailed characterization of the 5' CpG island. Additional 5' PGD coding sequence has been isolated by PCR screening of a cDNA library, followed by direct sequencing of the PCR product. Genetic mapping studies facilitated by the CEPH pedigrees and data base have allowed a tentative location for the PGD locus in the map of chromosome 1. Segregation analysis of the D1F15S1 polymorphism in these pedigrees has led to its assignment at a location proximal to PND. The genetic mapping information from pedigree analysis is confirmed by physical data.

Type: Thesis (Doctoral)
Qualification: Ph.D
Title: Genetic and physical mapping in the terminal region of human chromosome 1p
Open access status: An open access version is available from UCL Discovery
Language: English
Additional information: Thesis digitised by ProQuest.
URI: https://discovery.ucl.ac.uk/id/eprint/10102675
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