假肥大型进行性肌营养不良症一个家族的基因诊断检测

Gene diagnosis in a family of Becker's progressive muscular dystrophy

目的:对一个假肥大型进行性肌营养不良症(beckermusculardystro-phy,BMD)家族中的女性和胎儿进行携带者和产前基因诊断。方法:用9对引物的多重PCR法和相关的3个内含子(45,49和50)的(CA)n多态性检测法诊断BMD患者dystrophy基因DNA缺失。结果:此BMD家族中先证者为45,48号外显子缺失,45,49和50号内含子缺失,一个妹妹为正常人,2个姐姐及母亲为携带者,男胎儿为正常胎儿。结论:多重PCR法和(CA)n多态性检测法联合应用可对有DNA缺失阳性的BMD家族中的女性和胎儿进行携带者和产前基因诊断检查。

AIM:To perform gene diagnosis for female and fetal carriers as well as prenatal diagnosis in a family of Becker's progressive muscular dystrophy(BMD). METHODS:Multiplex PCR and(CA)n polymorphism(introns 44,49 and 50) methods were used to diagnose the DNA depletion of dystrophy gene in BMD carriers and BMD fetus. RESULTS:The probands showed the deletion of exons 45,48 and introns 45,49 and 50 by multiplex PCR and(CA)n polymorphism methods.Two elder sisters and their mother were carriers.And the male fetus and the younger sister were normal. CONCLUSION:Multiplex PCR and(CA)n polymorphism method can perform carrier and prenatal gene diagnosis for female members and fetus in a BMD family.