脊髓性肌萎缩症患者及对照组雄激素受体（AR）基因中的CAG重复多态性。

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group.

作者信息

Sułek Anna, Hoffman-Zacharska Dorota, Krysa Wioletta, Szirkowiec Walentyna, Fidziańska Elzbieta, Zaremba Jacek

机构信息

Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warszawa, Poland.

出版信息

J Appl Genet. 2005;46(2):237-9.

PMID:15876692

Abstract

Spinobulbar muscular atrophy (SBMA) is an X-linked form of motor neuron disease characterized by progressive atrophy of the muscles, dysphagia, dysarthria and mild androgen insensitivity. SBMA is caused by CAG repeat expansion in the androgen receptor gene. CAG repeat polymorphism was analysed in a Polish control group (n = 150) and patients suspected of SBMA (n = 60). Normal and abnormal ranges of CAG repeats were established in the control group and in 21 patients whose clinical diagnosis of SBMA was molecularly confirmed. The ranges are similar to those reported for other populations.

摘要

脊髓延髓肌肉萎缩症（SBMA）是一种X连锁型运动神经元疾病，其特征为肌肉进行性萎缩、吞咽困难、构音障碍以及轻度雄激素不敏感。SBMA由雄激素受体基因中的CAG重复序列扩增引起。对波兰对照组（n = 150）和疑似SBMA患者组（n = 60）进行了CAG重复多态性分析。在对照组以及21例临床诊断为SBMA且经分子学确诊的患者中确定了CAG重复序列的正常和异常范围。这些范围与其他人群报告的范围相似。