广西地区31例DMD/BMD家系基因分析及遗传咨询  

Gene analysis and genetic counseling of 31 cases of DMD /BMD family in Guangxi area

作　　者：杜娟[1] 韦波[1] 蒙达华[1] 陈少科[2] 陈科[1] 许涓涓[1] 付华钰[1] 

机构地区：[1]广西壮族自治区妇幼保健院遗传科,530003 [2]广西壮族自治区妇幼保健院儿科

出　　处：《中国妇幼保健》2013年第25期4188-4189,共2页Maternal and Child Health Care of China

基　　金：广西医疗卫生重点科研项目〔重2010064〕

摘　　要：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 characteristics of gene distribution of Duchene and Becker muscular dystrophy in Guangxi region, establish gene diagnosis and genetic consultation platform. Methods ： MLPA technique was used to conduct 79 gene detection and a- nalysis on the selected family samples. Results： Among 31 samples of 20 families, 22 cases were diagnosed as patients, 16 patients were di- agnosed as gene deletion, the incidence rate was 72. 7% ; 5 patients were diagnosed as deletion form, and two mothers were probands, and three cases were not carriers, accounting for 60%. Conclusion： Conducting gene detection by MLPA technique broadens the detection range, and it is helpful to detect carriers.

关 键 词：Duchenne和Becker型肌营养不良症 MLPA技术 基因缺失 遗传咨询 

分 类 号：R394[医药卫生—医学遗传学]