Literature DB >> 1680799

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

E R Maher1, E Bentley, J R Yates, F Latif, M Lerman, B Zbar, N A Affara, M A Ferguson-Smith.   

Abstract

Genetic linkage studies were performed in 22 families with von Hippel-Lindau (VHL) disease by using polymorphic DNA markers from distal chromosome 3p. Linkage was detected between VHL disease and the markers D3S18 (Zmax = 6.6 at theta = 0.0, confidence interval (CI) 0.00-0.06), RAF1 (Zmax = 5.9 at theta = 0.06, CI 0.01-0.16), and THRB (Zmax 3.4 at theta = 0.11). Multipoint linkage analysis localized the VHL disease gene within a small region (approximately 8 cM) of 3p25-p26 between RAF1 and (D3S191, D3S225) and close to the D3S18 locus. There was no evidence of locus heterogeneity, and families with and without pheochromocytoma showed linkage to D3S18. The identification of DNA markers flanking the VHL disease gene allows reliable presymptomatic and prenatal diagnosis to be offered to informative families.

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Year:  1991        PMID： 1680799     DOI： 10.1016/0888-7543(91)90185-h

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  19 in total

Review 1.  Von Hippel-Lindau disease.

Authors:  E R Maher; A T Moore
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5.  Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.

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Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

6.  Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation. A combined genetic study, including cytogenetics, PCR/SSCP, FISH, and CGH.

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7.  Long range restriction map of the von Hippel-Lindau gene region on human chromosome 3p.

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8.  Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.

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9.  Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours.

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10.  Physical mapping of chromosome 3p25-p26 by fluorescence in situ hybridisation (FISH).

Authors:  M E Phipps; E R Maher; N A Affara; F Latif; M A Leversha; M E Ferguson-Smith; Y Nakamura; M Lerman; B Zbar; M A Ferguson-Smith
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132
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