Duchenne肌营养不良症高风险家系的产前基因诊断

目的 研究Ｄｕｃｈｅｎｎｅ肌营养不良症家系中高风险孕妇的产前基因诊断。方法 应用ＰＣＲ方法扩增６个分布于ＤＭＤ基因全长范围的ＣＡ重复序列多态标记，对４个ＤＭＤ有系进行单体型连锁分析及孕妇的产前基因诊断。结果 这６个ＣＡ多态位点可提供足够的多态信息量，４个家系的所有成员均获得了完整准确的基因单株型，连锁分析诊断出２例ＤＭＤ男胎，１各正常男胎和２名正常女胎，并经出生后检测证实。

Prenatal gene diagnosis in high danger families with Duchenne muscular dystrophy

Objective To study prenatal gene diagnosis in high danger pregnant wo men with Duchenne muscular dystrophy (DMD) families. Methods 6 CA repeat polymorphisms locus within the human dystrophin gene region were amplified by polymerase chain reaction (PCR). 4 DMD families were carried out by haplotype linkage analysis and prenatal gene diagnosis. Results The polymorphism information was provided completely in the 4 families. In 5 fetuses, 2 cases for DMD male fetuses, the others (1 normal male fetus and 2 normal female fetus) were made by linkage analysis and postnatal determination. Conclusion The method of haplotype linkage analysis of 6 CA repeat polymorphisms was well suited to prenatal diagnosis for DMD families, it had microdosage,rapid and accurate characteristic.