Giltay J C, van Hoef A M, de Weger R, Duran M, Berger R, Beemer F A
Klinisch Genetisch Centrum Utrecht.
Tijdschr Kindergeneeskd. 1991 Jun;59(3):77-80.
In phenylketonuria (PKU) usually there is a defect in the phenylalanine hydroxylase (PAH) gene. Eight restriction fragment length polymorfisms (RFLP's) in the PAH gene together constitute the haplotype. A considerable number of mutations, responsible for the gene defect, some of which are rather frequent, have been described. Here, we present the first results of investigations on the distribution of haplotypes and mutations in PKU patients in the Netherlands. A short literature review is presented.
在苯丙酮尿症（PKU）中，通常苯丙氨酸羟化酶（PAH）基因存在缺陷。PAH基因中的八个限制性片段长度多态性（RFLP）共同构成单倍型。已经描述了相当数量导致该基因缺陷的突变，其中一些相当常见。在此，我们展示了对荷兰PKU患者单倍型和突变分布进行调查的首批结果。并给出了简短的文献综述。
