Duchenne型肌营养不良症高危妊娠的产前基因诊断

Prenatal Diagnosis of Duchenne Muscular Dystrophy (DMD) by DNA Polymorphism Analysis

本文利用克隆的C7,754,pERT87-1,pERT87-8,pERT87-15 DNA片段作为探针,对1例Duchenne型肌营养不良症高危妊娠,成功地进行了产前基因诊断。根据RFLPs连锁分析证明胎儿不携带DMD基因,为正常男胎,足月顺产后,随访证明产前诊断正确。证明产前基因诊断是防止DMD患儿出生的有效手段。

Using the cloned DNA fragment (C 7, 754, pERT87-1, 8, 15) as the probes, we analysed six RFLPs in a DMD family. We could infer that the fetus does not carry DMD gene according to analysis of the inberitance and segregation of the RFLPs. Follow-up observation confirmed the above result.