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目的对有Duchenne肌营养不良(Duchenne muscular dystrophy,DMD)家族史的孕妇进行产前诊断研究。方法 PCR检测胎儿的性别决定基因(SRY)和DMD基因常见缺失的18个外显子,同时用DMD基因的6个(CA)n重复序列STR位点进行连锁分析,对31例有DMD家族史的孕妇进行产前诊断;随访健康胎儿出生后的发育情况,评估产前诊断方法的可靠性。结果 32例胎儿(1例双胎)中,18例女性胎儿中有6例为DMD基因携带者;14例男性胎儿中4例为DMD患儿。结论对DMD高风险胎儿进行SRY基因检测,联合应用DMD基因的18个外显子检测和连锁分析能够准确、有效地产前诊断DMD。
Objective To study the prenatal diagnosis of pregnant women with a family history of Duchenne muscular dystrophy (DMD). Methods PCR was used to detect the 18 deletions of sex determining genes (SRY) and DMD genes in fetus. Sixteen (CA) n repeat STR loci of DMD gene were used for linkage analysis. 31 patients with DMD family history Of pregnant women for prenatal diagnosis; Follow-up healthy fetus after birth, to assess the reliability of prenatal diagnosis. Results Among the 32 fetuses (1 twins), 6 of 18 female fetuses were carriers of DMD gene and 4 of 14 male fetuses were DMD children. Conclusion Detection of SRY gene in fetus with high risk of DMD combined with 18 exons and linkage analysis of DMD gene can accurately and effectively diagnose DMD prenatally.