Woolf L I, McBean M S, Woolf F M, Cahalane S F
Ann Hum Genet. 1975 May;38(4):461-9. doi: 10.1111/j.1469-1809.1975.tb00635.x.
Mothers of children with phenylketonuria have a significantly lower miscarriage rate than a matched control population in Ireland and west Scotland. This protective effect of the gene against some factor causing foetal death would seem to constitute a heterozygote advantage which might account for the previously observed polymorphism for phenylketonuria. It is suggested that the decrease in foetal mortality is mediated by the higher concentration of phenylalanine in the heterozygous mother's blood, but that this is not a simple nutritional effect of an increased supply of an essential amino acid leading to increased protein deposition.
患有苯丙酮尿症孩子的母亲流产率显著低于爱尔兰和苏格兰西部相匹配的对照人群。该基因对某些导致胎儿死亡的因素的保护作用似乎构成了一种杂合子优势，这可能解释了之前观察到的苯丙酮尿症的多态性。有人提出，胎儿死亡率的降低是由杂合子母亲血液中较高浓度的苯丙氨酸介导的，但这并非是必需氨基酸供应增加导致蛋白质沉积增加的简单营养效应。
