应用PCR和基因测序检测自然流产胚胎ε珠蛋白基因突变  

Application of PCR and gene sequencing in detection of embryonic ε-globin gene mutation in spontaneous abortion

作　　者：刘立群[1] 李再仪[1] 苏秀梅[1] 游泽山[1] 

机构地区：[1]中山大学附属第一医院黄埔院区妇产科,广东广州510700

出　　处：《中国妇幼保健》2010年第16期2265-2267,共3页Maternal and Child Health Care of China

基　　金：广东省科技厅基金项目〔2008B030301096〕

摘　　要：目的:检测自然流产绒毛胚胎血红蛋白ε-珠蛋白基因突变情况,探索此基因突变与流产之间的关系。方法:收集研究组20例自然流产妇女,对照组15例要求行人工流产术的正常妊娠妇女。提取基因组DNA,应用聚合酶链反应(Poly-merase Chain Reaction,PCR)分别特异扩增胚胎血红蛋白ε-珠蛋白基因编码区和调控区的基因片段,基因测序,所测结果与正常基因序列进行比对分析。结果:发现在自然流产患者标本的5'端调控区两个新的多态性位点。结论:自然流产患者的胚胎血红蛋白ε-珠蛋白基因可能存在致病突变。Objective：To detect the situation of ε-globin gene mutation in embryonic hemoglobin of villus in spontaneous abortion,and explore the relationship between gene mutation and abortion.Methods：20 women with spontaneous abortion were collected as study group,15 normal pregnant women demanding induced abortion were selected as control group.Genomic DNA was extracted from chorionic villi samples.The gene fragments in coding region and regulatory region of ε-globin gene of embryonic hemoglobin were amplified specifically by polymerase chain reaction（PCR）,then gene sequencing was conducted,the results were compared with the standard sequence.Results：Two new polymorphic sites in 5＇ terminal of regulatory region were found in samples of spontaneous abortion.Conclusion：The ε-globin gene of embryonic hemoglobin in patients with spontaneous abortion may have pathological mutation.

关 键 词：自然流产 人胚胎血红蛋白ε-珠蛋白基因 基因突变 

分 类 号：R714.21[医药卫生—妇产科学]