X连锁肌营养不良症14例基因缺失的研究  

Gene deletion in 1 4 patients with Duchenne/Becker muscular dystrophy

作　　者：滕葵[1] 李厚钧[1] 周郁[1] 张宇红[1] 

机构地区：[1]兰州军区乌鲁木齐总医院医学遗传研究室

出　　处：《中华神经精神科杂志》1995年第4期199-201,共3页

摘　　要：应用９对引物的多重扩增对新疆地区的１４例Ｘ连锁肌营养不良症（ＭＤ）患者进行了基因分析。结果发现其中７例（５０％）有至少一个基因片段的缺失，且缺失热点集中于外显子４５～５１，这与国内外报道相近。同时发现，２例Ｂｅｃｋｅｒ型肌营养不良症的基因缺失均为一段，而５例Ｄｕｃｈｅｎｎｅ型肌营养不良症中的４例缺失各为２～３段。缺失片段多少是否与症状严重程度之间存在某种联系尚待研究论证。Abstract:Nine sets of primers were used to amplify the dystrophin gene from 1 4 patients with Duchenne/Becker mucular dystrophy (DMD/BMD) in Xinjiang district. The results showed that there was at least one fragment deleted in 7 of the 14(50%)patients; The deletion hot points' were concentrated on extrons 4 5~51. This result was consistent with the reports published elsewhere.Meanewhile,only one fragment was missed in two BMD patients. But two or three fragments of detetion were found in 4 of the 5 DMD patients. It is uncertain whether some correlation existed between the number of deleted fragrnents and the degree of severity of the disease.

关 键 词：聚合酶链反应 基因缺失 肌营养不良症 基因诊断 

分 类 号：R746.204[医药卫生—神经病学与精神病学] Q343.1[医药卫生—临床医学]