眼咽型肌营养不良症（OPMD）——澳大利亚一个家族的报告及遗传学研究

Oculopharyngeal muscular dystrophy (OPMD)--report and genetic studies of an Australian kindred.

作者信息

Teh B T, Sullivan A A, Farnebo F, Zander C, Li F Y, Strachan N, Schalling M, Larsson C, Sandstrom P

机构信息

Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.

出版信息

Clin Genet. 1997 Jan;51(1):52-5. doi: 10.1111/j.1399-0004.1997.tb02415.x.

DOI:10.1111/j.1399-0004.1997.tb02415.x

PMID:9084936

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant disease. Due to a founder effect, it is most commonly found in the French Canadian population. The gene has recently been mapped to chromosome 14q11.2-q13 in some of these families. Here we report an Australian kindred of German descent with OPMD. Linkage analysis supports its locus to chromosome 14q. Repeat expansion studies were also carried out, but a CAG trinucleotide repeat expansion detected did not cosegregate with the disease. We conclude that there is no evidence of genetic heterogeneity or involvement of repeat expansion in OPMD.

摘要

眼咽型肌营养不良症（OPMD）是一种迟发性常染色体显性疾病。由于奠基者效应，该病最常见于法裔加拿大人群体。最近在其中一些家族中发现该基因定位于14号染色体q11.2 - q13区域。在此，我们报告一个患有OPMD的德裔澳大利亚家族。连锁分析支持其基因座位于14号染色体q区。我们也进行了重复序列扩增研究，但检测到的CAG三核苷酸重复序列扩增与疾病并不共分离。我们得出结论，没有证据表明OPMD存在遗传异质性或重复序列扩增参与其中。