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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。
The author used cDMD8 as a hybridization probe in the complete cDNA molecule of DMD locus to perform Southern hybridization on 6 unrelated DMD / BMD individual genomes. It was firstly found in the domestic DMD locus that there were molecular deletions in 3 DMD individuals, The missing parts and size all showed genetic heterogeneity. This finding confirms Koenig et al.’s opinion that molecular subtypes are one of the major mutations at this site. This study also provides a basis for direct, rapid and accurate prenatal diagnosis of X-linked dystrophy.