摘要
作者应用DMD位点完整的cDNA分子中的cDMD8作为杂交探针,对6例无亲缘关系的DMD/BMD个体基因组进行Southern分子杂交,在国内首次发现3例DMD个体基因组DMD位点存在分子缺失,其缺失部位和大小均表现遗传异质性。这一发现证实了Koenig等的观点:分子水平的亚显微缺失是该位点的主要突变方式之一。本研究还为直接,快速、准确地进行X-连锁肌营养不良症的产前基因诊断提供了基础。
Southern blot analysis of DNA samples from six unrelated Chinese DMD/BMD individuals with cDMD_8 probe from the complete clone of DMD locus cDNA was performed to detect the molecular deletions. Of six individuals, three were demonstrated to have submicroscopic molecular deletions. Our result is in agreement with the previous conclusion by Koenig et al that molecular deletion is presumed to be one of the common mutation forms causing the DMD/BMD and application of deletion detection with cDNA probes permits direct DNA analysis including prenatal diagnosis and carrier identification.
出处
《遗传与疾病》
CSCD
北大核心
1990年第3期162-164,191,共3页
基金
江苏省卫生厅资助
关键词
肌营养不良症
分子缺失
分子杂交
X-linked muscular dystrophy Southern molecular hybridization Mo lecular deletion
