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

Margaret 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, Jeffery M Vance

Research output: Contribution to journalArticle

10 Citations (Scopus)

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
Pages (from-to)487-491
Number of pages5
JournalJournal of Medical Genetics
Volume30
Issue number6
StatePublished - Dec 1 1993
Externally publishedYes

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Dinucleotide Repeats
von Hippel-Lindau Disease
Pedigree
Microsatellite Repeats
Chromosomes
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. / Pericak-Vance, Margaret 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, Jeffery M.

In: Journal of Medical Genetics, Vol. 30, No. 6, 01.12.1993, p. 487-491.

Research output: Contribution to journalArticle

Pericak-Vance, MA, Nunes, KJ, Whisenant, E, Loeb, DB, Small, KW, Stajich, JM, Rimmler, JB, Yamaoka, LH, Smith, DI, Drabkin, HA & Vance, JM 1993, 'Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26', Journal of Medical Genetics, vol. 30, no. 6, pp. 487-491.
Pericak-Vance, Margaret 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, Jeffery M. / Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. In: Journal of Medical Genetics. 1993 ; Vol. 30, No. 6. pp. 487-491.
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