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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
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
关键词
苯丙酮尿症
胎前诊断
基因诊断
Phenylketonuria Prenatal gene diagnosis Phenylalanine hydroxylase Polymerase chain reaction
