Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.
Open Access
- 1 June 1993
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (6) , 487-491
- https://doi.org/10.1136/jmg.30.6.487
Abstract
A genetic map of highly polymorphic microsatellite markers spanning the von Hippel-Lindau region (VHL) of 3p25 was constructed using the CEPH reference pedigrees. A greater than 1000:1 odds map of pter-D3S1038-RAF1-D3S651-D3S656-D3S110- D3S1255-cen was found. Genotyping of six multigenerational VHL families showed the region surrounding the D3S1038 marker to be the most likely location for the VHL gene with a peak location score of 10.04 with VHL completely linked to D3S1038. These data provide an initial high resolution genetic map of this region; D3S1038 appears to be a highly polymorphic marker that should prove useful in the future for presymptomatic diagnosis.Keywords
This publication has 21 references indexed in Scilit:
- Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13qNature Genetics, 1992
- Chromlook: An interactive program for error detection and mapping in reference linkage dataGenomics, 1992
- cA479 (D3S719): a cosmid mapped telomeric of the Von Hippel Lindau disease gene contains the D3S18 locusHuman Molecular Genetics, 1992
- Isolation and characterization of 19 dinucleotide repeat polymorphisms on chromosome 3pHuman Molecular Genetics, 1992
- Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysisGenomics, 1991
- Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease.Proceedings of the National Academy of Sciences, 1991
- Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3Genomics, 1990
- Confirmation of linkage in von Hippel-Lindau diseaseGenomics, 1990
- Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.1974
- Lindau's diseaseThe American Journal of Medicine, 1964