与面肩肱型肌营养不良相关的4号染色体q臂DNA重排。

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.

作者信息

Wijmenga C, Hewitt J E, Sandkuijl L A, Clark L N, Wright T J, Dauwerse H G, Gruter A M, Hofker M H, Moerer P, Williamson R

机构信息

MGC-Department of Human Genetics, Leiden University, The Netherlands.

出版信息

Nat Genet. 1992 Sep;2(1):26-30. doi: 10.1038/ng0992-26.

DOI:10.1038/ng0992-26

PMID:1363881

Abstract

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.

摘要

面肩肱型肌营养不良症（FSHD）是一种常染色体显性神经肌肉疾病，定位于4号染色体长臂末端，在D4S139位点的远端。在寻找同源框基因的过程中分离出的粘粒克隆13E，随后被定位于4q35，也在D4S139的远端。一个亚克隆p13E-11在正常个体中检测到一个多态性的EcoRI片段，通常大于28千碱基（kb）。令人惊讶的是，使用相同的探针，我们在6例新的FSHD病例中的5例中检测到了从头DNA重排，其特征是EcoRI片段较短（14 - 28 kb）。在分析的10个荷兰家庭中，14 - 28 kb之间的一个特定较短片段与FSHD共分离。这两个观察结果表明，FSHD是由p13E-11检测到的EcoRI片段中独立的从头DNA重排引起的。