非缺失型女性Duchenne型肌营养不良症患者短串联重复序列多态性分析

目的 检测1例女性Duchenne型肌营养不良症(DMD)患者Dystrophin基因的突变情况及其短串联重复序列多态性。以探讨其发病机制。方法用多重PCR方法检测l例女性DMD患者的Dystrophin基因，并用PCR结合基因扫描的方法连锁分析该患者及其家系的5个微卫星DNA位点(STR-44、45、49、40、5’DysⅡ)多态性。结果 该患者和其儿子均为非缺失型DMD。短串联重复序列多态单倍型连锁分析发现女性DMD患者STR单倍型有两种情况：(1)和其患病的儿子Ⅳ-1具有一样的单倍型，该单倍型来自其未患病的母亲Ⅱ-1；(2)因该女性DMD患者儿子的第45内含子缺失。该患者的母亲有可能是嵌合体，该女性DMD患者只遗传了父亲的等位基因，则她的单倍型与其母亲及患病的儿子都不同。结论该女性患者由Dystrophin基因突变引起的可能性较小，她和患病的儿子的单倍型可能相同或不相同，说明其发病与短串联重复序列多态性关系不密切。

Analysis of short tandem repeat polymorphism in a female patient with Duchenne muscular dystrophy]

OBJECTIVE: To understand the mechanism of Duchenne/Becker muscular dystrophy (DMD) in a female patient. METHODS: A multiplex PCR (mPCR) protocol was applied to detect the dystrophin gene of the female DMD patient and her family members, whose haplotypes were analyzed in light of short tandem repeat polymorphism (STR) of five microsatellite markers (located in 5' terminus and introns 44, 45, 49, and 50). RESULTS: No deletion was detected in the affected female patient and her affected son. Examination of the female DMD patient's STR haplotypes identified in the female patient and her affected son the same haplotype inherited from her unaffected mother, who was a likely germinal mosaicism. The female patient has different haplotype from her affected son and her mother as a deletion was identified in the intron 45 of the affected son, and the female patient and her mother were probably heterozygous for this deletion. CONCLUSION: STR haplotype may not be responsible for the pathogenesis of DMD in the female patient and her affected son.