非缺失型Duchenne型肌营养不良症家系16例产前诊断

Prenatal diagnosis in sixteen families with non-deletion Duchenne muscular dystrophy

目的:探讨使用Duchenne型肌营养不良症(DMD)基因区域多态性位点在非缺失型DMD家系产前诊断的价值。方法:用DMD基因非编码区4个(CA)n重复序列多态性结合染色体核型分析,对16例非缺失型DMD家系进行产前诊断。结果:产前诊断发现4例男胎、2例女胎获得风险X染色体,余1例女胎和9例男胎均未携带风险X染色体。且检测结果的可靠性经出生婴儿DNA分析及临床症状检测得到证实。结论:胎儿性别鉴定结合基因连锁分析的方法,在规范的检测程序和有效的质量控制下,能准确地对非缺失型DMD进行产前遗传学诊断,可有效预防患儿出生。

Aim ： To explore the value of linkage analysis on prenatal diagnosis of non-deletion Duchenne muscle dystrophy（DMD） pedigrees using dinucleotide repeat polymorphisms （CA）n in DMD gene as markers. Methods： Linkage analysis was performed with four intragenic short tandem repeats （i44, i45, i49, i50） in DMD gene, combined with sexual determination by karyotyping analysis for fetus. Results： In prenatal diagnosis of sixteen non-deletion DMD pedigrees, four male and two female fetuses carried inherited risk X chromosome, and one female and nine male fetuses were normal. The reliability of the test was confirmed by the second test for the DNA of neonates and monitoring for the clinical symptoms of DMD. Conclusion： With strict control for normative detection procedure and effective quality control,linkage analysis com- bined with sexual determination is effective laboratory test in the clinical prenatal diagnosis for the risk fetus of DMD.