假肥大型肌营养不良症基因诊断研究I．Dystrophin基因5’区域缺失分析

A Study on Gene Diagnosis in Pseudo-Hypertrophic Muscular Dystrophy I.Analysis of Molecular Deletion in 5’Region of Dystrophin Gene

用ＤｙｓｔｒｏｐｈｉｎｃＤＮＡ亚克隆ｃＤＭＤ１－２ａ和ｃＤＭＤ２ｂ－３为分子杂交探针，以Ｓｏｕｔｈｅｒｎ杂交方法，对６０例无亲缘关系假肥大型肌营养不良症（ＤＭＤ／ＢＭＤ）患者ＤＭＤ基因５’区域的分子结构进行研究，发现１２例病人在此区域存在着位置、范围不同的缺失突变。其中４例ＢＭＤ显示整码缺失突变，５例ＤＭＤ显示移码突变，另３例ＤＭＤ有大范围的分子缺失。

unrelated patients with pseudo-hypertrophic muscular dystrophy (DMD and BMD)have been studied through use of the dystrophin cDNA probes-cDMD 1-2a and cDMD 2b-3.Hind Ⅲ-digested DNAs were analyzed by Southern blotting of 60 cases, 12 showed a deletion of one or several of the exon-containing Hind Ⅲfragments. The position and extent of deletions were mapped in 5'region of DMD gene. The Phenotypic-specific deletion in 4 BMD cases shows the rearrangemet with in frame, and in 8 DMD the frameshift.