Application of Short Tandem Repeat in Prenatal Diagnosis for Phenmylketonuria during the First Trimester  

短重复序列在妊娠早期苯丙酮尿症产前诊断中的应用(英)

作　　者：赵晓岚 叶国玲 楚雍烈 刘琪 蔡晓宁 李明丽 

机构地区：[1]DepartmentofMedicalGenetics,theSecondHospitalofXi‘anJiaotongUniversity,Xi’an710004,P.R.China

出　　处：《Journal of Nanjing Medical University》2003年第2期58-61,共4页南京医科大学学报（英文版）

摘　　要：Objective : To find a simple and rapid way far the prenatal diagnosis of phenyUce-tonuria (PKU) during the first trimester in order to prevent inborn PKU patients as early as possible. Methods :DNA was extracted respectively from the Mood sampleps of 9 families' members and chori-onic tissues of 9 embryoes by cliorionic vittus sampling (CVS). The independent short tandem repeat (STR) alleles of members in 9 families with classic form of PKU were analyzed and prenatal diagnosis were conducted using polymerase chain reaction (PCR) together with denaturing gradient gel elec-trophoresis(DGGE)and silver dyeing. Results-.We identified 1 embryo with PKU, 2 normal individuals and 5 carriers among 9 subjects. Conclusion: Prenatal diagnosis for PKU by STR is available in the first trimester. This procedure was promising and would be widely used in Chinese population.Objective : To find a simple and rapid way far the prenatal diagnosis of phenyUce-tonuria (PKU) during the first trimester in order to prevent inborn PKU patients as early as possible. Methods :DNA was extracted respectively from the Mood sampleps of 9 families' members and chori-onic tissues of 9 embryoes by cliorionic vittus sampling (CVS). The independent short tandem repeat (STR) alleles of members in 9 families with classic form of PKU were analyzed and prenatal diagnosis were conducted using polymerase chain reaction (PCR) together with denaturing gradient gel elec-trophoresis(DGGE)and silver dyeing. Results-.We identified 1 embryo with PKU, 2 normal individuals and 5 carriers among 9 subjects. Conclusion: Prenatal diagnosis for PKU by STR is available in the first trimester. This procedure was promising and would be widely used in Chinese population.

关 键 词：prenatal diagnosis PHENYLKETONURIA short tandem repeat first trimester 

分 类 号：R714.54[医药卫生—妇产科学]