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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,可用于Duchenne型或Becker型肌营养不良家系中检出携带者及产前诊断
OBJECTIVE: To analyze allelic fragment length polymorphisms in a single generation of Becker muscular dystrophy pedigree and identify different haplotypes in patients, carriers and normal offspring. Methods: The exon of Dystrophin gene was amplified by multiplex polymerase chain reaction (PCR) and the presence or absence of exon was detected. The short tandem repeats (STR44, STR45 and STR49) of intron of Dystrophin gene were amplified by polymerase chain reaction , STR50), the resulting product was analyzed for allelic fragment length polymorphism. Results: Exon 17, 19 and 45 of the proband were deleted, alleles of STR44 and STR45 were missing, and the corresponding locus of the proband was hemizygous. For the missing carriers, the elder sister got from Two sets of normal haplotypes for their parents. Conclusion: Short tandem repeat polymorphism analysis method can distinguish normal and risk haplotypes accurately and rapidly, and can be used for detection of carriers and prenatal diagnosis in Duchenne or Becker muscular dystrophy families