Woo S L, Lidsky A S, Güttler F, Chandra T, Robson K J
Nature. 1983;306(5939):151-5. doi: 10.1038/306151a0.
The human gene for the hepatic enzyme phenylalanine hydroxylase has been cloned and used to analyse the phenylalanine hydroxylase locus in the human genome. The detection of polymorphisms in this locus by several restriction enzymes has allowed feasibility studies of prenatal diagnosis of classical phenylketonuria and identification of carriers of the trait. Results indicate that these services could be provided for up to 75% of all families with phenylketonuric children in the general Caucasian population.
肝脏酶苯丙氨酸羟化酶的人类基因已被克隆，并用于分析人类基因组中的苯丙氨酸羟化酶基因座。通过几种限制性内切酶检测该基因座中的多态性，使得对经典苯丙酮尿症进行产前诊断以及鉴定该性状携带者的可行性研究成为可能。结果表明，在一般白种人群中，可为多达75%有苯丙酮尿症患儿的家庭提供这些服务。
