改良PCR技术检测孕妇血浆中胎儿性别相关基因SRY的研究  

Application of cell-free fetal DNA in maternal plasma for non-invasive prenatal diagnosis of fetal sex by of improved polymerase chain reaction techniques

作　　者：陈熙[1] 任景慧[2] 郭辉[1] 林琳华[1] 姚秋璇[1] 赵跃宏[1] 黄小林[1] 苏放明[1] 

机构地区：[1]暨南大学第二临床医学院,深圳518020 [2]深圳市人民医院遗传病诊断及产前诊断中心,深圳518020

出　　处：《中国产前诊断杂志（电子版）》2008年第2期11-14,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：深圳市科技计划项目(200603136);深圳市卫生局科研项目(200632)

摘　　要：目的利用改良式PCR技术检测孕妇血浆游离胎儿DNA,探讨无创性产前性别鉴定的可行性。方法选择孕龄为14~38周产前诊断或引产的孕妇25名,抽取外周静脉血2 ml,采用柱分离法提取DNA,用改良式PCR技术检测其胎儿SRY基因。同时采集脐血或羊水,经细胞培养后行脐血或羊水染色体核型分析鉴定胎儿性别。结果25例孕妇血浆标本经改良式PCR技术检测游离胎儿DNA,以脐血或羊水染色体核型分析鉴定的性别为标准,17例男性胎儿孕妇血浆标本有15例出现SRY基因扩增带;8例孕女性胎儿孕妇血浆标本均未出现SRY基因扩增带。检测总符合率为92%。结论利用孕妇血浆中游离胎儿DNA和改良式PCR技术可以快速简便地进行无创伤性产前性别鉴定,对性连锁遗传性疾病的产前诊断具有重要意义。Objective To investigate the feasibility and possibility of application of cell-free fetal DNA from maternal plasma for non-invasive prenatal diagnosis of fetal sex by an improved polymerase chain reaction(PCR) technique. Methods Plasma cell-free fetal DNA in blood samples of 25 pregnant women at the gestational period of 14 to 38 weeks were extracted by column separation and an improved polymerase chain reaction were employed to amplify the SRY gene.Results Among the 17 women bearing male fetuses,SRY sequences were detected in 15 plasma samples after improved PCR amplification,while none of the 8 women bearing female fetuses had the positive results.The concordance rate of SRY gene amplification results of plasma cell-free DNA with real fetal sex was 92%.Conclusion Using cell-free fetal DNA from maternal plasma and polymerase chain reaction was a quick,effective and simple method for prenatal diagnosis of the fetal sex.It is of significance to prevent sex-linked inheritant diseases.

关 键 词：PCR 游离胎儿DNA 性别鉴定 产前诊断 

分 类 号：R450[医药卫生—治疗学] R714.5[医药卫生—临床医学]