假肥大型肌营养不良症基因诊断及遗传分析

目的对假肥大型肌营养不良症（DMD／BMD）患者进行基因诊断并对家系进行遗传分析，以提高对DMD／BMD的基因诊断水平及有效的遗传咨询。方法对40例DMD／BMD患者应用18对引物多重PCR技术进行Dystrophin基因缺失诊断，收集完整家系资料进行遗传分析以判断致病基因携带者及评估风险。结果40例DMD／BMD患者基因诊断有27例至少存在一个外显子片段缺失（67．5％），13例未检测到缺失（32．5％）。通过对家系的遗传分析判断出致病基因携带者。结论多重PCR作为一种简便快速的诊断方法可对DMD／BMD患者进行基因诊断；对风险家系进行遗传分析、判断致病基因携带者以进行有效的遗传咨询，进而控制遗传病。

Gene diagnosis and hereditary analysis in families of Duchenne/Becker muscular dystrophy

Objective： To perform gene diagnosis and hereditary analysis in families of Duchenne/Becker muscular dystrophy （DMD/BMD） in order to improve its diagnosis and genetic counseling. Methods： Forty cases of DMD/BMD were screened for gene deletion with multiplex - PCR （mPCR） using eighteen pairs of primers. Pedigree analyses were carried out in families of DMD/BMI） in order to determine carriers and risk status in their posterities. Results ： The results of gene diagnosis in forty cases of DMD/BMD patients showed that different exon deletions were detected in twenty - seven cases （67. 5% ）, thirteen were not （32. 5% ）. The deletions of sixteen cases were located in exons 44 - 52, six in exons 2 - 20 and five in the both. Carriers were determined by pedigree analyses. Conclusion： It is feasible to perform gene diagnosis for DMD/BMD patients by mPCR. Hereditary analysis in high risk families of DMD/BMD and carrier detection may be useful for effective genetic counseling and the reduction in incidence of hereditary disease.