X-连锁肌营养不良症分子缺失的初步研究

PRELIMINARY STUDY OF MOLECULAR DELETION ON X LINKED MUSCULAR DYSTROPHY

作者应用DMD位点完整的cDNA分子中的cDMD 8作为杂交探针,对6例无亲缘关系的DMD/BMD个体基因组进行了Southern分子杂交,在国内首次报告3例DMD个体基因组DMD位点存在分子缺失,且其缺失部位和分子大小均表现为遗传异质性,证实了Koenig等的观点:分子水平的亚显微缺失为该位点的主要突变方式之一。本研究为直接,快速,准确地进行X—连锁肌营养不良症的产前基因诊断奠定基础。

Southern blot analysis of DNA samples from six unrelated Chinese Duchenne muscular dystrophy (DMD)and Becker muscular dystrophy (BMD) individuals with cDMD8 probe from the complete clone of DMD locus cDNA was performed to detect the molecular deletions. Of six individuals, three were demonstrated to have^- submic-roscopic molecular deletions. Our result is in agreement with the previous conclusion by Koenig et al, that molecular deletion is proved to be one of the common mutation forms causing the DMD/BMD and application of deletion detection with cDNA probes permits direct DNA—based analysis including prenatal diagnosis and carrier identifi-cation.