Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26

M. A. Pericak-Vance, K. J. Nunes, E. Whisenant, D. B. Loeb, K. W. Small, J. M. Stajich, J. B. Rimmler, L. H. Yamaoka, D. I. Smith, H. A. Drabkin, J. M. Vance

Research output: Contribution to journalArticle

10 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)487-491
Number of pages5
JournalJournal of medical genetics
Volume30
Issue number6
DOIs
StatePublished - 1993

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Pericak-Vance, M. A., Nunes, K. J., Whisenant, E., Loeb, D. B., Small, K. W., Stajich, J. M., Rimmler, J. B., Yamaoka, L. H., Smith, D. I., Drabkin, H. A., & Vance, J. M. (1993). Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. Journal of medical genetics, 30(6), 487-491. https://doi.org/10.1136/jmg.30.6.487