有Duchenne肌营养不良家族史孕妇的产前基因诊断

Prenatal diagnosis of pregnant women with a family history of Duchenne muscular dystrophy

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 prenatal diagnosis of pregnant women with a family history of Duchenne muscular dystrophy（DMD）.Methods SRY gene was detected in 31 pregnant women with a family history of DMD by PCR amplification.Among the pregnant women one had twin.The analysis of deletion for the 18 exons with higher deletion frequency and the linkage of 6（CA）n short tandem repeat（STR） in DMD gene were carried out.The reliability of prenatal diagnosis was assessed by follow-up of infant development.Results The test for SRY gene revealed 14 male and 18 female were in the 32 fetuses.The results of exon deletion test and linkage analysis for DMD gene showed that 6 in 18 female fetuses were DMD gene mutation carriers,and 4 in 14 male fetuses suffered from DMD.The consulting advices for medical termination were given to the 4 pregnant women with DMD fetus.Conclusions Our data suggests that SYR gene detection combined the detection of exon deletion test and the analysis for linkage of DMD gene should be an accurate and effective prenatal diagnosis strategy for DMD in high-risk fetuses.