Thalhammer O, Lubec G, Königshofer H
Hum Genet. 1979 Jul 18;49(3):333-6. doi: 10.1007/BF00569353.
Intracellular phenylalanine and tyrosine was determined in lymphocytes of 10 heterozygotes (parents) for PKU and in 26 randomly collected apparently normal persons. In cells from the heterozygotes the concentrations of both phenylalanine and tyrosine were higher than in those from the normals, the difference being statistically highly significant. It is argued that this could be responsible for the slight, though statistically significant, intellectual inferiority of heterozygotes for PKU.
测定了10名苯丙酮尿症杂合子(父母)以及26名随机选取的表面上正常者淋巴细胞中的细胞内苯丙氨酸和酪氨酸。杂合子细胞中苯丙氨酸和酪氨酸的浓度均高于正常者细胞,差异具有高度统计学意义。有人认为,这可能是导致苯丙酮尿症杂合子智力略低(尽管具有统计学意义)的原因。