Genetic linkage to the collagen alpha 1(V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes

被引：11

作者：

Burrows, NP

Nicholls, AC

Yates, JR

Richards, AJ

Pope, FM

机构：

[1] ADDENBROOKES HOSP,DEPT CLIN GENET,NHS TRUST,CAMBRIDGE CB2 2QQ,ENGLAND

[2] STRANGEWAYS RES LAB,CONNECT TISSUE GENET GRP,MRC,CAMBRIDGE CB1 4RN,ENGLAND

[3] UNIV CAMBRIDGE,DEPT PATHOL,CAMBRIDGE CB2 1QP,ENGLAND

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 1997年 / 22卷 / 04期

基金：

英国惠康基金;

关键词：

D O I：

10.1046/j.1365-2230.1997.2290654.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

To investigate the role of COL5A1 as a candidate gene for Ehlers-Danlos syndrome (EDS), we have carried out linkage studies in two large British families with EDS type I/II and type II, respectively. Fourteen living, affected individuals were identified by family-history clinical examination and ultrastructural analysis. a polymorphic intragenic simple sequence repeat at the COL5A1 locus showed linkage to EDS without recombination to give a combined lod score of 5.7. We have previously reported linkage to COL5A1 in an EDS type I/II family which brings the total lod score to 9.8 at zero recombination. Taken together, these data implicate COL5A1 as an important cause of EDS and confirm that types I and II are allelic.

引用

页码：174 / 176

页数：3

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