Kalaydjieva L, Dworniczak B, Kucinskas V, Yurgeliavicius V, Kunert E, Horst J
Laboratory of Molecular Pathology, Medical Academy, Institute of Obstetrics, Sofia, Bulgaria.
Hum Genet. 1991 Feb;86(4):411-3. doi: 10.1007/BF00201847.
Analysis of 81 phenylketonuria families from Bulgaria, Lithuania and eastern Germany demonstrated a high frequency of haplotype 2 and the associated Arg408----Trp408 substitution. Haplotype 3 and the splicing mutation in intron 12 are rare or absent in the groups studies. Pooling the data on European populations suggests a Balto-Slavic origin of the defect in codon 408 of the phenylalanine hydroxylase gene and a geographical gradient in the distribution of both major PKU mutations which may contribute to the higher incidence of classic PKU in northern Europeans.
对来自保加利亚、立陶宛和德国东部的81个苯丙酮尿症家庭的分析表明，单倍型2以及相关的Arg408----Trp408替代的频率很高。在研究的群体中，单倍型3和内含子12中的剪接突变很少见或不存在。汇总欧洲人群的数据表明，苯丙氨酸羟化酶基因密码子408处的缺陷起源于波罗的海-斯拉夫，并且两种主要苯丙酮尿症突变的分布存在地理梯度，这可能导致北欧经典苯丙酮尿症的发病率较高。
