Meijer H, Hekking M, van den Enden A T, Jongbloed R J, Schrander-Stumpel C T, Geraedts J P
Rijksuniversiteit Limburg, Vakgroep Genetica/Celbiologie, Maastricht.
Ned Tijdschr Geneeskd. 1990 Oct 6;134(40):1954-8.
Phenylketonuria (PKU), due to a defect in phenylalanine hydroxylase (PAH), is presented as a model system for computer-aided DNA diagnosis of genetic diseases. Eight different restriction fragment length polymorphism (RFLP) markers have been localized within the introns of the 90 kb PAH gene (located on chromosome 12). These RFLPs can be combined in 384 different ways and each combination has been defined as a particular haplotype. A special computer program has been developed to calculate the possible haplotype combinations in a PKU core family (index patient and parents), with the goal to derive unambiguously both the PAH and PKU alleles. Taking into account that participation of other members of the family (grandparents or brothers/sisters) is sometimes necessary, haplotyping by itself is sufficient to establish (or exclude) the PKU status of an individual in approximately eight out of ten PKU families.
苯丙酮尿症（PKU）由于苯丙氨酸羟化酶（PAH）缺陷，成为用于遗传疾病计算机辅助DNA诊断的模型系统。8种不同的限制性片段长度多态性（RFLP）标记已定位在90 kb PAH基因（位于12号染色体）的内含子内。这些RFLP可以以384种不同方式组合，每种组合都被定义为一种特定单倍型。已开发出一种特殊的计算机程序来计算PKU核心家庭（索引患者及其父母）中可能的单倍型组合，目的是明确推导PAH和PKU等位基因。考虑到有时需要家庭其他成员（祖父母或兄弟姐妹）的参与，在大约十分之八的PKU家庭中，单倍型分型本身就足以确定（或排除）个体的PKU状态。
