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
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.