应用STR在妊娠早期进行苯丙酮尿症产前诊断的研究  

Study of Prenatal Diagnosis for Phenylketonuria by STR in the First Trimester.

作　　者：赵晓岚[1] 刘琪[2] 叶国玲[2] 楚雍烈[1] 蔡晓宁[2] 刘瑾[2] 李小美[2] 刘宁侠[2] 

机构地区：[1]西安交通大学医学院微生物教研室,陕西西安710061 [2]西安交通大学第二医院遗传学教研室,陕西西安710004

出　　处：《中国儿童保健杂志》2002年第4期241-242,共2页Chinese Journal of Child Health Care

摘　　要：【目的】　应用基因短片段重复序列 (STR)对 4例曾生育过经典型苯丙酮尿症 (PKU)患儿的孕妇 ,在妊娠 8～ 11周进行产前诊断。　【方法】　采用盲取法吸取绒毛组织 ,提取DNA。应用聚合酶链反应扩增STR ,经变性凝胶电泳 ,再用银染显色方法 ,分析苯丙氨酸羟化酶 (PAH)基因内含子 3中TCTA重复序列的多态性。　【结果】　 3例胎儿为携带者 ,1例为正常胎儿。　【结论】　应用STR可在妊娠早期进行苯丙酮尿症的产前诊断。Prenatal diagnosis was made for 4 women at 8～11 weeks pregnant who had given birth to phenylketonuria(PKU) babies. DNA was extracted from the tissue by CVS.A method based on PCR was developed to amplify short tandem repeat(STR) in combination with denaturing gradient gel electrophoresis (DGGE) and silver dyeing.The polymorphism of repeat sequence TCTA in intron 3 of PAH gene was analysed. Three fetuses of four cases were carriers,one was normal. [Conclusion] Prenatal diagnosis for PKU by STR was available in the first trimester.

关 键 词：苯丙酮尿症 产前诊断 STR 妊娠早期 基因短片段重复序列 PKU 胎儿 

分 类 号：R714.54[医药卫生—妇产科学]