Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.
Publication
, Journal Article
Pericak-Vance, MA; Nunes, KJ; Whisenant, E; Loeb, DB; Small, KW; Stajich, JM; Rimmler, JB; Yamaoka, LH; Smith, DI; Drabkin, HA
Published in: J Med Genet
June 1993
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.
Duke Scholars
Published In
J Med Genet
DOI
ISSN
0022-2593
Publication Date
June 1993
Volume
30
Issue
6
Start / End Page
487 / 491
Location
England
Related Subject Headings
- von Hippel-Lindau Disease
- Repetitive Sequences, Nucleic Acid
- Polymorphism, Restriction Fragment Length
- Pedigree
- Middle Aged
- Male
- Humans
- Genetics & Heredity
- Genetic Markers
- Genetic Linkage
Citation
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ICMJE
MLA
NLM
Pericak-Vance, M. A., Nunes, K. J., Whisenant, E., Loeb, D. B., Small, K. W., Stajich, J. M., … Drabkin, H. A. (1993). Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. J Med Genet, 30(6), 487–491. https://doi.org/10.1136/jmg.30.6.487
Pericak-Vance, M. A., K. J. Nunes, E. Whisenant, D. B. Loeb, K. W. Small, J. M. Stajich, J. B. Rimmler, L. H. Yamaoka, D. I. Smith, and H. A. Drabkin. “Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.” J Med Genet 30, no. 6 (June 1993): 487–91. https://doi.org/10.1136/jmg.30.6.487.
Pericak-Vance MA, Nunes KJ, Whisenant E, Loeb DB, Small KW, Stajich JM, et al. Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. J Med Genet. 1993 Jun;30(6):487–91.
Pericak-Vance, M. A., et al. “Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.” J Med Genet, vol. 30, no. 6, June 1993, pp. 487–91. Pubmed, doi:10.1136/jmg.30.6.487.
Pericak-Vance MA, Nunes KJ, Whisenant E, Loeb DB, Small KW, Stajich JM, Rimmler JB, Yamaoka LH, Smith DI, Drabkin HA. Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. J Med Genet. 1993 Jun;30(6):487–491.
Published In
J Med Genet
DOI
ISSN
0022-2593
Publication Date
June 1993
Volume
30
Issue
6
Start / End Page
487 / 491
Location
England
Related Subject Headings
- von Hippel-Lindau Disease
- Repetitive Sequences, Nucleic Acid
- Polymorphism, Restriction Fragment Length
- Pedigree
- Middle Aged
- Male
- Humans
- Genetics & Heredity
- Genetic Markers
- Genetic Linkage