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Literature DB >> 8100855

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

M A Pericak-Vance¹, 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.

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.

Entities: Chemical Disease Gene

Mesh：

Substances：

Year: 1993 PMID： 8100855 PMCID： PMC1016422 DOI： 10.1136/jmg.30.6.487

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

21 in total

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Authors: J L Haines
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Authors: K L MELMON; S W ROSEN
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3. cA479 (D3S719): a cosmid mapped telomeric of the Von Hippel Lindau disease gene contains the D3S18 locus.

Authors: W Liu; J Vance; D I Smith
Journal: Hum Mol Genet Date: 1992-06 Impact factor: 6.150

4. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors: J Ott
Journal: Am J Hum Genet Date: 1974-09 Impact factor: 11.025

5. Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis.

Authors: E R Maher; E Bentley; J R Yates; F Latif; M Lerman; B Zbar; N A Affara; M A Ferguson-Smith
Journal: Genomics Date: 1991-08 Impact factor: 5.736

6. Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease.

Authors: B R Seizinger; D I Smith; M R Filling-Katz; H Neumann; J S Green; P L Choyke; K M Anderson; R N Freiman; S M Klauck; J Whaley
Journal: Proc Natl Acad Sci U S A Date: 1991-04-01 Impact factor: 11.205

7. Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3.

Authors: S Hosoe; H Brauch; F Latif; G Glenn; L Daniel; S Bale; P Choyke; M Gorin; E Oldfield; A Berman
Journal: Genomics Date: 1990-12 Impact factor: 5.736

8. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

Authors: K Ben Othmane; M Ben Hamida; M A Pericak-Vance; C Ben Hamida; S Blel; S C Carter; A M Bowcock; K Petruhkin; T C Gilliam; A D Roses
Journal: Nat Genet Date: 1992-12 Impact factor: 38.330