MAPPING OF THE VON HIPPEL-LINDAU DISEASE LOCUS TO A SMALL REGION OF CHROMOSOME-3P BY GENETIC-LINKAGE ANALYSIS

被引：74

作者：

MAHER, ER ^{[1
]}

BENTLEY, E ^{[1
]}

YATES, JRW ^{[1
]}

LATIF, F ^{[1
]}

LERMAN, M ^{[1
]}

ZBAR, B ^{[1
]}

AFFARA, NA ^{[1
]}

FERGUSONSMITH, MA ^{[1
]}

机构：

[1] NCI,IMMUNOBIOL LAB,FREDERICK,MD 21701

来源：

GENOMICS | 1991年 / 10卷 / 04期

关键词：

D O I：

10.1016/0888-7543(91)90185-H

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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 θ = 0.0, confidence interval (CI) 0.00 - 0.06), RAF1 (Zmax = 5.9 at θ = 0.06, CI 0.01 - 0.16), and THRB (Zmax 3.4 at θ = 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. © 1991.

引用

页码：957 / 960

页数：4

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