一个BMD家族基因短串联重复顺序多态性分析  

Gene analysis in the family of Becker muscular dystrophy, by short tandem repeat sequence polymorphism

作　　者：蔡竖平[1] 沈定国[1] 汪江[1] 

机构地区：[1]解放军总医院肌病研究室,北京100853

出　　处：《军医进修学院学报》1999年第3期161-163,共3页Academic Journal of Pla Postgraduate Medical School

基　　金：国家自然科学基金!资助项目批准号 3 93 70 2 5 8

摘　　要：目的:在一个一代发病的Becker型肌营养不良家系中进行等位片段长度多态性分析,识别患者,携带者及正常后代不同的单体型。方法:用多重聚合酶链反应方法扩增Dystrophin基因外显子,检测有无外显子缺失,用聚合酶链反应方法扩增位于Dystrophin基因内含子的短串联重复顺序(STR44,STR45,STR49,STR50),所得产物进行等位片段长度多态性分析。结果:先证者第17,19及45号外显子缺失,STR44,STR45位点等位片段缺失,先证者之母相应位点为半合子,为缺失携带者,先证者之姐得到来自其父母的两组正常单体型。结论:短串联重复顺序多态性分析方法可以准确而迅速地区分正常及风险单体型。Objective:Allelic fragment length polymorphism analysis was performed in the family of males with Becker muscular dystrophy in one generation in order to type haplotypes among the patients, carrier and normal offspring. Methods:Deletion analysis of the patients were performed using multiplex polymerase chain reaction (PCR) of amplification with 9 dystrophin exons described by Chamberlain et al, allelic fragment length polymorphism analysis was made on DNA with PCR amplification using the intragenic short tandem repeat (STR) sequence (STR44, STR45, STR49 and STR50) in the members of the family. Results:The deletions of exons 17, 19 and 45, as well as deletions of allelic fragments at the loci of STR44, STR45 were determined in the patients, hemizygosity at those two loci were detected and carrier status ascertained in the mother of the patients. The normal haplotypes were typed in the sister of the patients. Conclusion:The method of STR sequence polymorphism analysis can determine haplotypes at normal status or at risk status, it would be used in prenatal diagnosis and carrier detection in the families of Duchenne and Becker muscular dystrophy.

关 键 词：肌营养障碍 聚合酶链反应 短串联重复顺序 

分 类 号：R746.202[医药卫生—神经病学与精神病学]