MAPPING OF VONHIPPEL-LINDAU DISEASE TO CHROMOSOME-3P CONFIRMED BY GENETIC-LINKAGE ANALYSIS

被引：31

作者：

MAHER, ER

BENTLEY, E

YATES, JRW

BARTON, D

JENNINGS, A

FELLOWS, IW

PONDER, MA

PONDER, BAJ

BENJAMIN, C

HARRIS, R

FERGUSONSMITH, MA

机构：

[1] UNIV CAMBRIDGE,DEPT PATHOL,CAMBRIDGE,ENGLAND

[2] UNIV NOTTINGHAM HOSP,NOTTINGHAM NG7 2UH,ENGLAND

[3] HALLAMSHIRE HOSP,SHEFFIELD S10 2JF,S YORKSHIRE,ENGLAND

[4] UNIV MANCHESTER,DEPT MED GENET,MANCHESTER M13 9PL,LANCS,ENGLAND

[5] DEPT PATHOL,CANC RES CAMPAIGN,HUMAN CANC GENET RES GRP,CAMBRIDGE,ENGLAND

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1990年 / 100卷 / 1-2期

关键词：

VONHIPPEL-LINDAU DISEASE; CHROMOSOME-3P; GENETIC LINKAGE ANALYSIS; MAPPING;

D O I：

10.1016/0022-510X(90)90008-B

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Genetic linkage studies were performed in 12 British families with von Hippel-Lindau disease (VHL) using RFLPs at three loci (DNF15S2, THRB, RAF1) on the short arm of chromosome 3. Linkage was detected between the VHL disease locus and RAF1 with a maximum lod score of 3.88 at a recombination fraction of 0.05 (confidence interval 0.003-0.18). Multipoint linkage analysis suggested that the most likely location for the VHL disease locus is telomeric to THRB. These results confirm earlier reports localizing the VHL gene to the short arm of chromosome 3, and provide no evidence for genetic heterogeneity.

引用

页码：27 / 30

页数：4

共 21 条

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