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

doi:10.1136/jmg.30.6.487

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

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	487-491
Number of pages	5
Journal	Journal of medical genetics
Volume	30
Issue number	6
DOIs	https://doi.org/10.1136/jmg.30.6.487
State	Published - 1993

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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

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.",

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

year = "1993",

doi = "10.1136/jmg.30.6.487",

language = "English (US)",

volume = "30",

pages = "487--491",

journal = "Journal of Medical Genetics",

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publisher = "BMJ Publishing Group",

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T1 - Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26

AU - Pericak-Vance, M. A.

AU - Nunes, K. J.

AU - Whisenant, E.

AU - Loeb, D. B.

AU - Small, K. W.

AU - Stajich, J. M.

AU - Rimmler, J. B.

AU - Yamaoka, L. H.

AU - Smith, D. I.

AU - Drabkin, H. A.

AU - Vance, J. M.

PY - 1993

Y1 - 1993

N2 - 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.

AB - 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.

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JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 6

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

Abstract

ASJC Scopus subject areas

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