Instability of normal (CTG)(n) alleles in the DM kinase gene

被引：4

作者：

Dow, DJ ^{[1
]}

Rubinsztein, DC ^{[1
]}

Yates, JRW ^{[1
]}

Barton, DE ^{[1
]}

FergusonSmith, MA ^{[1
]}

机构：

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

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 10期

关键词：

myotonic dystrophy; instability; normal alleles;

D O I：

10.1136/jmg.34.10.871

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a myotonic dystrophy (DIM) family exhibiting instability of normal sized (CTG)(n) alleles in the DIM kinase gene on the non-DM chromosome. At least two mutational events involving normal DM alleles must have occurred in this family; one was characterised as a 34-35 (CTG)(n) repeat mutation. These findings represent a dissociation between (CTG)(n) repeat instability and myotonic dystrophy. Furthermore, this family highlights genetic counselling issues relating to the pathogenicity of alleles at the upper end of the normal size range and the risk of further expansion into the disease range.

引用

收藏

页码：871 / 873

页数：3

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