Ramus S J, Forrest S M, Pitt D B, Saleeba J A, Cotton R G
Olive Miller Protein Laboratory, Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
J Med Genet. 1993 May;30(5):401-5. doi: 10.1136/jmg.30.5.401.
We have screened 55 untreated phenylketonuria patients from 42 families for common mutations of the phenylalanine hydroxylase gene and determined both causative alleles in 12 families. The correlation between genotype and intellectual phenotype of patients in these families was examined. Our results were compared to a study which predicted phenylalanine hydroxylase activity based on genotype and examined its correlation with the biochemical phenotype of treated patients. Some of the intellectual phenotypes of patients in our study correlated well with the predicted activities. However, we found one family with a genotype expected to have no activity of phenylalanine hydroxylase where the patients were not severely retarded. Major differences in intellectual phenotype were found in patients with the same genotype both between unrelated subjects and within families, suggesting that there is not a simple correlation between genotype and intellectual phenotype.
我们对来自42个家庭的55名未经治疗的苯丙酮尿症患者进行了苯丙氨酸羟化酶基因常见突变的筛查，并确定了12个家庭中的致病等位基因。研究了这些家庭中患者的基因型与智力表型之间的相关性。我们将结果与一项基于基因型预测苯丙氨酸羟化酶活性并研究其与治疗患者生化表型相关性的研究进行了比较。我们研究中患者的一些智力表型与预测活性密切相关。然而，我们发现一个家庭，其基因型预期苯丙氨酸羟化酶无活性，但患者并未严重智力发育迟缓。在无关个体之间以及家庭内部，具有相同基因型的患者在智力表型上存在重大差异，这表明基因型与智力表型之间不存在简单的相关性。
