16例经典型苯丙酮尿症的产前基因诊断  

PRENATAL GENE DIAGNOSIS OF CLASSICAL PHENYLKETONURIA IN 16 PREGNANCIES WITH HIGH RISK

作　　者：袁丽芳[1] 黄尚志[1] 罗会元[1] 方炳良[1] 杨涛[1] 王玫[1] 王涛[1] 孙念怙[1] 赵时敏[1] 刘慎如[1] 叶珏[1] 

机构地区：[1]中国医学科学院基础医学研究所医学遗传室,北京协和医院,北京医科大学

出　　处：《中华医学遗传学杂志》1995年第6期327-329,I022,共4页Chinese Journal of Medical Genetics

基　　金：卫生部"八五"攻关项目;美国CMB资助

摘　　要：应用聚合酶链反应－等位基因特异的寡核苷酸斑点杂交、聚合酶链反应－短串联重复序列对１６例经典型苯丙酮尿症（ＰＫＵ）作家系连锁分析，以及应用聚合酶链反应－单链构型多态性，对其进行产前诊断。其中１０例已获验证，结果与产前诊断相符。Classical phenylketonuria(PKU)is the most common inherited metabolic disease resulting in severe mental retardation in childhood.It is caused by a deficiency of phenylalanine hydroxylase(PAH).Even though PKU can be treated effectively with low phenylalanine diet,some shortcomings do exist.Many parents seek for prenatal diagnosis.Since PAH is only active in hepatocytes,it would require fetal liver biopsy;therefore ,DNA analysis is the exclusive way for prenatal diagnosis of PKU.During the past five years,we successfolly performed 16 cases of prenatal diagnosis and 10 cases were confirmed after delivery or abortion.Among 16 cases of prenatal diagnosis 14 were completed by using PCR-mediated allele-specific oligo-nycleotide hybridization,2 were carried out using linkage analysis by amplification of STR(short tandem repeat)within the PAH gene.and 4 were completed by PCR-SSCP.

关 键 词：苯丙酮尿症 胎前诊断 基因诊断 

分 类 号：R589.304[医药卫生—内分泌] R714.54[医药卫生—内科学]