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目的研究Ｄｕｃｈｅｎｎｅ肌营养不良症（ＤＭＤ）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家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体型，连锁分析诊断出２例为ＤＭＤ男胎、１名正常男胎和２名正常女胎，并经出生后（或流产后）检测证实。结论采用６个位点ＣＡ重复序列多态单体型连锁分析方法，具有微量、快速、准确的特点，适应于ＤＭＤ家系高风险孕妇产前诊断的需要。
Objective To study the prenatal genetic diagnosis of high-risk pregnant women in the Duchenne muscular dystrophy (DMD) pedigree. Methods Sixty-six CA repeat polymorphic markers (DMDs) distributed in the entire length of DMD gene were amplified by polymerase chain reaction (PCR). The four DMD pedigrees were analyzed by haplotypic linkage analysis and prenatal diagnosis in pregnant women. Results The six CA polymorphic loci provided enough polymorphic information, all members of the four families had complete and accurate gene haplotypes, and two of them were diagnosed as DMD male fetuses and one normal male by linkage analysis Tire and 2 normal female fetuses, and after birth (or after abortion) test confirmed. Conclusion Six loci CA repeats polymorphic haplotype linkage analysis method has the characteristics of trace, rapid and accurate, and is suitable for the prenatal diagnosis of high risk pregnant women with DMD pedigree.