冯·希佩尔-林道病连锁关系的确认。

Confirmation of linkage in von Hippel-Lindau disease.

作者信息

Vance J M, Small K W, Jones M A, Stajich J M, Yamaoka L H, Roses A D, Hung W Y, Pericak-Vance M A

机构信息

Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.

出版信息

Genomics. 1990 Mar;6(3):565-7. doi: 10.1016/0888-7543(90)90488-g.

DOI:10.1016/0888-7543(90)90488-g

PMID:2328994

Abstract

Von Hippel-Lindau (VHL) disease was initially reported to be linked to the RAF1 oncogene (3p25). We have ascertained and sampled two large multigenerational VHL families for linkage studies, in order to confirm the localization of the VHL gene as a prelude to fine mapping studies. The probes used in the analysis were p627 (RAF1) and pHeA12 (thyroid hormone receptor B) (3p24.1-3p22). VHL was analyzed as an autosomal dominant trait with age-dependent penetrance. The maximum lod score combining both families was z(theta) = 2.16 at theta = 0.0 for RAF1 and z(theta) = 2.20 at theta = 0.05 for thyroid hormone receptor B. Multipoint analysis using the RAF1 and thyroid hormone receptor B loci resulted in a peak lod score of 3.1 confirming linkage of VHL to this region of chromosome 3. However, the position of VHL relative to the two loci could not be established with certainty.

摘要

冯·希佩尔－林道（VHL）病最初被报道与RAF1癌基因（3p25）相关。我们已确定并选取了两个大型多代VHL家族进行连锁研究，以确认VHL基因的定位，作为精细定位研究的前奏。分析中使用的探针是p627（RAF1）和pHeA12（甲状腺激素受体B）（3p24.1 - 3p22）。VHL被作为一种具有年龄依赖性外显率的常染色体显性性状进行分析。两个家族合并后的最大对数优势分数在θ = 0.0时，RAF1的z(θ) = 2.16，在θ = 0.05时，甲状腺激素受体B的z(θ) = 2.20。使用RAF1和甲状腺激素受体B基因座进行多点分析，得到的最大对数优势分数为3.1，证实VHL与3号染色体的该区域连锁。然而，VHL相对于这两个基因座的位置尚无法确定。