SRY基因在遗传性疾病产前性别鉴定中的诊断价值

Diagnostic value of SRY gene in prenatal sex confirmation of genetic diseases

目的 :探讨 SRY基因在妊娠早期基因诊断中的价值。方法 :经阴道获取胎儿细胞 ,应用PCR方法扩增 SRY和 DYZ1基因片段 ,以染色体核型分析作为金标准 ,比较它们的敏感度、特异度和一致性。结果 :SRY-PCR的敏感度、特异度和一致性均高于 DYZ1 -PCR。结论 :在用于性连锁遗传性疾病的产前性别诊断中 ,SRY基因具有明显优势 。

Objective: To access the value of sex determining region Y (SRY) gene in early prenatal diagnosis. Methods:fatal cells were obtain from female genital tract. Gene fragments of SRY and DYZ 1 locafed on long arm of chrmosome Y and commonly used for sex confirmation by PCR at present were amplified, respectively, with PCR technique. Sensitivity, specificity and accuracy were compare with gold standard chorionic chromasome cytogenetic analysis. Results:Sensitivity, specificity and accuracy of SRY PCR were better than those of DYZ1 PCR.Conclusion: SRY gene is fairly for prenatal sex confirmation associated with sex linked hereditary diseases .The method should be futher recommented in future.