内含子或外显子缺失DMD家系女性携带者的基因诊断

Carrier genetic diagnosis of intron and/or exon-deletion Duchenne muscular dystrophy by microsatellite analysis and quantitative polymerase chain reaction

目的 对内含子和（或）外显子缺失的Duchenne型肌营养不良症（Duchenne muscular dystrophy，DMD）家系女性成员进行致病基因携带者的诊断，为进一步行产前诊断或植入前遗传学诊断提供准确的信息。方法 利用dystrophin基因5个微卫星位点（STR-44、45、49、40、5’DysⅡ）的多态性连锁分析，同时结合半定量PCR对1个内含子和外显子均缺失的DMD家系（家系5）和1个仅内含子缺失的DMD家系（家系4）的女性成员进行携带者基因诊断。结果 家系5的Ⅱ2的STR-50位点基因型为245／245，不是DMD基因携带者6家系4的Ⅱ6、Ⅱ8的STR-45位点基因型为dd／172，Ⅲ19为del／178，均为DMD基因携带者。结论 STR-PCR多态性分析结合内含子半定量PCR可获得更多诊断信息，更准确地检出内含子缺失的女性携带者，提高诊断率。

Objective To detect the female carders from the intron and/or exon-deletion Duchenne/Becker musclular dystrophy （DMD） familial members for prenatal or preimplantation genetic diagnosis. Methods Using method d PCR to five microsatellite markers （located in 5＇ terminus and intron 44, 45, 49, 50）, analysing of the short tandem repeat sequence polymorphism with the genescan and binding with the quantitative polymerase chain reaction, we detected the DMD carders from 1 intron and exon -deletion family and 1 intron-deletion family. Results The STR-50 genotype of Ⅱ 2 in family 5 was 245/245, so Ⅱ 3 is DMD gene cartier. The STR-45 genotype of Ⅱ6 and Ⅱ8 were del/172, Ⅲ 19 was del/178, so they were all DMD gene carders. Conclusion The SIR haploid linkage analysis combined with quantitative polymerase chain reaction is accurate and efficient to detect the female carriers from the intron and/or exon-deletion DMD familial members.