目的:了解广西地区Duchenne和Becker型肌营养不良症基因分布特点,建立基因诊断及遗传咨询平台。方法:对所采家系标本应用MLPA技术进行79个基因检测分析。结果:20个家系31例标本中有22例患者,16例检测出基因缺失,缺失率为72.7%;5例确诊为缺失型先证者的母亲为2例,非携带者3例,占60%。结论:采用MLPA技术进行基因检测,增加了检测范围,有利于携带者的检出。 OBJECTIVE: To understand the gene distribution of Duchenne and Becker muscular dystrophy in Guangxi and to establish a genetic diagnosis and genetic counseling platform. Methods: MLPA technique was used to analyze 79 genes in the collected family specimens. RESULTS: Twenty-two of the 31 samples from 20 pedigrees were detected, of which 16 were gene deletion, with a deletion rate of 72.7%. There were 2 mothers with 5 confirmed cases of missing probands and 3 non-carriers with 60 %. Conclusion: MLPA technology for genetic testing, an increase of detection range, is conducive to the detection of carriers.