论文部分内容阅读
目的肢带型肌营养不良症（ＬＧＭＤ）是常见的常染色体遗传肌肉病，特点为髋肩带肌无力、萎缩，进行性发展至远端肌肉，男女均可受累，有明显的遗传异质性，国外研究发现重型ＬＧＭＤ分别涉及１３ｑ１２、１７ｑ２１、４ｑ１２、５ｑ３３区域编码γ－、α－、β－、δ－糖蛋白的４个基因座位。中国人群中ＬＧＭＤ的致病基因研究尚无报道，拟通过粘附蛋白（ａｄｈａｌｉｎ）基因突变的检测，鉴定其致病基因。方法用ＰＣＲ－ＳＳＣＰ及ＤＮＡ测序法对ａｄｈａｌｉｎ基因第２、３外显子进行了突变检测及鉴定。结果发现１例散发的９岁女患者ａｄｈａｌｉｎ第２、３外显子存在纯合Ａｒｇ７７Ｃｙｓ突变，此突变在本实验的４０条野生染色体中未发现。结论发现中国人群中重型ＬＧＭＤ（ＤＬＭＤ）存在ａｄｈａｌｉｎ基因突变。提示１７ｑ２１区的ａｄｈａｌｉｎ基因是中国人ＬＧＭＤ的一个致病基因。
The purpose of the limb muscular dystrophy (LGMD) is a common autosomal genetic muscle disease, characterized by weakness of the hip sarcolemma, atrophy, progressive development to the distal muscles, both men and women can be affected, with significant genetic heterogeneity , Foreign studies have found that heavy LGMD respectively involved 13q12, 17q21, 4q12, 5q33 region encoding γ-, α-, β-, δ-glycoprotein 4 loci. There is no report about the virulence gene of LGMD in Chinese population. It is proposed that the pathogenic gene of LGMD be identified through the detection of adhalin gene mutation. Methods Mutations of exon 2 and exon 2 of adhalin gene were detected by PCR-SSCP and DNA sequencing. The results showed that there was homozygous Arg77Cys mutation in exon 2 and exon 2 of adhalin in a 9-year-old female patient, which was not found in the 40 wild chromosomes of this experiment. Conclusion The adhalin gene mutation was found in heavy-duty LGMD (DLMD) in Chinese population. It is suggested that the adhalin gene in 17q21 region is a causative gene of Chinese LGMD.