一个BMD家族基因短串联重复顺序多态性分析

目的：在一个一代发病的Ｂｅｃｋｅｒ型肌营养不良稼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），所得产物进行等位估算长度多态性。结果：先证者第１７，１９及４５号外显子缺

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

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.