Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

被引:0
|
作者
Spiegel, R
LaSpada, AR
Kress, W
Fischbeck, KH
Schmid, W
机构
[1] UNIV WASHINGTON,MED CTR,DEPT LAB MED,SEATTLE,WA 98195
[2] UNIV ZURICH,INST MED GENET,ZURICH,SWITZERLAND
[3] UNIV WURZBURG,INST HUMAN GENET,W-8700 WURZBURG,GERMANY
[4] UNIV PENN,SCH MED,DEPT NEUROL,PHILADELPHIA,PA 19104
关键词
X-linked spinal and bulbar muscular atrophy (SBMA); CAG repeat; somatic stability; triplet repeat expansion;
D O I
10.1002/(SICI)1098-1004(1996)8:1<32::AID-HUMU4>3.3.CO;2-C
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Expansion of trinucleotide repeats has now been associated with eight inherited diseases: X-linked spinal and bulbar muscular atrophy, two fragile X syndromes, myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type I, dentatorubral pallidoluysian atrophy and Machado-Joseph disease. It has been shown that these expanded DNA repeats are unstable in number when transmitted from parents to offspring (''meiotic instability''), while somatic variation in repeat number has also been found in the fragile X syndrome and myotonic dystrophy. Moderate meiotic instability has been demonstrated in X-linked spinal and bulbar muscular atrophy (SBMA, Kennedy's disease). In order to determine if the expanded CAG repeat in SBMA also shows somatic instability, we compared different tissues from two patients with SBMA. We then examined the in vitro stability of the CAG repeat expansion by analyzing fibroblast cell cultures. Length comparison of expanded CAG repeats from all these materials clearly demonstrates that the CAG trinucleotide repeat in SBMA does not exhibit somatic variation. (C) 1996 Wiley-Liss, Inc.
引用
收藏
页码:32 / 37
页数:6
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