论文部分内容阅读
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。
Objective: To investigate the value of polymorphism loci in Duchenne muscular dystrophy (DMD) gene in prenatal diagnosis of non-deletion DMD pedigree. Methods: Prenatal diagnosis of 16 DMD non-deletional DMD pedigrees was performed by using 4 (CA) n repeat polymorphisms in the non-coding region of DMD combined with karyotype analysis. Results: Prenatal diagnosis revealed 4 male fetuses and 2 female fetuses with risk X chromosome. The other 1 female fetus and 9 male fetuses did not carry the risk X chromosome. And the reliability of test results confirmed by the analysis of infant DNA and clinical symptoms. CONCLUSION: Fetal gender identification combined with genetic linkage analysis can accurately diagnose non-deletion DMD in prenatal genetics under the standardized testing procedures and effective quality control, which can effectively prevent the birth of children.