GENETIC-MAPPING OF DINUCLEOTIDE REPEAT POLYMORPHISMS AND VONHIPPEL-LINDAU DISEASE ON CHROMOSOME-3P25-26

Citation
Ma. Pericakvance et al., GENETIC-MAPPING OF DINUCLEOTIDE REPEAT POLYMORPHISMS AND VONHIPPEL-LINDAU DISEASE ON CHROMOSOME-3P25-26, Journal of Medical Genetics, 30(6), 1993, pp. 487-491
Citations number
24
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
30
Issue
6
Year of publication
1993
Pages
487 - 491
Database
ISI
SICI code
0022-2593(1993)30:6<487:GODRPA>2.0.ZU;2-G
Abstract
A genetic map of highly polymorphic microsatellite markers spanning th e von Hippel-Lindau region (VHL) of 3p25 was constructed using the CEP H reference pedigrees. A greater than 1000:1 odds map of pter-D3S1038- RAF1-D3S651-D3S656-D3S110-D3S1255-cen was found. Genotyping of six mul tigenerational VHL families showed the region surrounding the D3S1038 marker to be the most likely location for the VHL gene with a peak loc ation score of 10.04 with VHL completely linked to D3S1038. These data provide an initial high resolution genetic map of this region; D3S103 8 appears to be a highly polymorphic marker that should prove useful i n the future for presymptomatic diagnosis.