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19名苯丙酮尿症(PKU)杂合子和26名正常人的细胞内苯丙氨酸和酪氨酸浓度。杂合子中较高的浓度值能否解释其智力水平较低的现象?

Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals. Do the higher values in heterozygotes explain their lowered intellectual level?

作者信息

Thalhammer O, Lubec G, Königshofer H

出版信息

Hum Genet. 1979 Jul 18;49(3):333-6. doi: 10.1007/BF00569353.

Abstract

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.

摘要

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。

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