Sun G, Wu Y, Zhang K, Zhang X, Jin C, Sun K
Department of Medical Genetics, China Medical University, Shenyang, Liaoning, 110001 P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 Dec 10;15(6):351-3.
Limb-girdle muscular dystrophy (LGMD) is a group of severe genetic heterogeneity muscular diseases characterized by proximal muscular weakness of the pelvis and shoulder, affecting both male and female. This group of diseases involves four gene loci (13q12, 17q21,4q12,5q33). Up till now there is no research report about LGMD in Chinese. This study was intended to identify the pathogenic genes of LGMD in Chinese by mutation detecting.
The exons 2 and 3 of adhalin gene were analyzed in 13 Chinese LGMD patients and 20 controls by using PCR-SSCP and DNA sequencing.
The R77C (Arg77Cys) missense mutation was found at the two alleles of a 9-year-old LGMD girl, which had not been found in the 40 wild type chromosomes. This is the first report on adhalin mutation that exists in LGMD in Chinese.
Our results suggest that adhalin gene is one of the predisposing genes in LGMD in Chinese.
肢带型肌营养不良症（LGMD）是一组具有严重遗传异质性的肌肉疾病，其特征为骨盆和肩部近端肌肉无力，男女均可受累。该组疾病涉及四个基因位点（13q12、17q21、4q12、5q33）。目前国内尚无关于LGMD的研究报道。本研究旨在通过突变检测确定中国人群中LGMD的致病基因。
采用PCR-SSCP和DNA测序技术，对13例中国LGMD患者和20例对照者的adhalin基因外显子2和3进行分析。
在一名9岁LGMD女孩的两个等位基因上发现了R77C（Arg77Cys）错义突变，在40条野生型染色体上未发现该突变。这是国内关于LGMD中存在adhalin突变的首次报道。
我们的结果表明，adhalin基因是中国人群中LGMD的致病基因之一。
