6例非缺失型Duchenne型肌营养不良家系产前基因诊断

目的 :建立非缺失型Duchenne型肌营养不良家系产前基因诊断平台。方法 :用Duchenne基因非编码区(CA)n重复序列结合染色体核型分析 ,对 6个非缺失型DMD家系进行产前基因诊断。结果 :在非缺失型的家系产前诊断中 ,发现获得风险X染色体的男胎 3例 ,女胎 1例 ,余 1例女胎和 1例男胎均未携带风险X染色体。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部分证实。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 ,是目前预防患儿出生有效的实验室检测方法。

Prenatal gene diagnosis of six non-deletion DMD pedigrees

Objective:To establish a procedure for prenatal gene diagnosis of non-deletion duchenne muscle dystrophy(DMD) pedigrees using dinucleotide repeat polymorphisms(CA)n in dystrophin gene as markers and evaluate its feasibility. Methods:Linkage analysis were performed with six intragenic short tandem repeats in Dystrophin gene, combined with sexual determination by karyotyping analysis for fetus.Results:In prenatal DMD gene diagnosis of six non-deletion pedigrees, three male and one female fetus carried inherited risk X chromosome, and one female and one male fetus were normal. The reliability of the test was partly 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, gene linkage analysis combined with sexual determination is effective laboratory test in the clinical prenatal gene diagnosis for the risk fetus of DMD.