目的对点突变型假肥大型肌营养不良症(Duchenne’s muscular dystrophy,DMD)患者的家系采用STR-PCR联合SRY-PCR分析方法进行产前基因诊断。方法采用STR-PCR连锁分析方法和SRY-PCR方法对20个点突变型DMD家系进行产前基因诊断。结果男性胎儿40%(8/20),其中患胎62.5%(5/8);女性胎儿60%(12/20),其中携带者58.3%(7/12)。结论 STR-PCR连锁分析方法结合SRY-PCR方法用于点突变型DMD家系的产前诊断,是目前一种快速、简便、准确和可行的方法。 Objective To analyze the pedigree of point-mutated Duchenne’s muscular dystrophy (DMD) using STR-PCR and SRY-PCR. Methods STR-PCR method and SRY-PCR method were used to diagnose 20 point-mutated DMD pedigrees. Results Male fetuses were 40% (8/20), of which 62.5% (5/8) had fetuses. Female fetuses were 60% (12/20), of which 58.3% (7/12) were carriers. Conclusion STR-PCR linkage analysis method combined with SRY-PCR method for prenatal diagnosis of point-mutated DMD pedigrees is currently a fast, simple, accurate and feasible method.