CHROMOSOME-4Q DNA REARRANGEMENTS ASSOCIATED WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY

被引：555

作者：

WIJMENGA, C

HEWITT, JE

SANDKUIJL, LA

CLARK, LN

WRIGHT, TJ

DAUWERSE, HG

GRUTER, AM

HOFKER, MH

MOERER, P

WILLIAMSON, R

VANOMMEN, GJB

PADBERG, GW

FRANTS, RR

机构：

[1] LEIDEN UNIV,MGC,DEPT HUMAN GENET,2333 AL LEIDEN,NETHERLANDS

[2] IMPERIAL COLL SCI TECHNOL & MED,ST MARYS HOSP,SCH MED,DEPT BIOCHEM & MOLEC GENET,LONDON W2 1PQ,ENGLAND

来源：

NATURE GENETICS | 1992年 / 2卷 / 01期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng0992-26

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which maps to chromosome 4qter, distal to the D4S139 locus. The cosmid clone 13E, isolated in a search for homeobox genes, was subsequently mapped to 4q35, also distal to D4S139. A subclone, p13E-11, detects in normal individuals a polymorphic EcoRI fragment usually larger than 28 kilobases (kb). Surprisingly, using the same probe we detected de novo DNA rearrangements, characterized by shorter EcoRI fragments (14-28 kb), in 5 out of 6 new FSHD cases. In 10 Dutch families analysed, a specific shorter fragment between 14-28 kb cosegregates with FSHD. Both observations indicate that FSHD is caused by independent de novo DNA rearrangements in the EcoRI fragment detected by p13E-11.

引用

页码：26 / 30

页数：5

共 16 条

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