胚胎植入前遗传性疾病筛查的方法学研究

Study on the methods of the genetic diseases screening in embrynic preimplantation

目的探索一种准确可行的胚胎植入前用性别检测方法来筛查X连锁遗传性疾病。方法采用巢式PCR和引物延伸预扩增后续PCR检测单个淋巴细胞和单个胚胎细胞的性别决定基因(sexdeterminingregiononY,SRY)。结果两种方法在检测单个淋巴细胞和单个胚胎细胞的性别决定基因时都具有较高的特异性和敏感性,统计学分析无显著性差异。结论上述两种检测方法均可用于临床胚胎植入前遗传学诊断的性别检测。

Objective To search an accurate and feasible method to detect genetic diseases by sex-screening in embrynic preimplantation.Methods Nested-PCR and primer extension preamplification were used to detect the SRY gene of single lymphocyte and single blastomere.Results The two methods showed good sensitivity and specificity in detecting the SRY gene of single lymphocyte and single blastomere. The statistics analysis showed no obvious difference.Conclusion The two methods can be both used for sex-screening of preimplantation genetic diagnosis in clinic.