【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。更多还原

【Abstract】 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.更多还原