Kádasi L, Poláková H, Feráková E, Hudecová S, Bohusová T, Szomolayová I, Strnová J, Hruskovic I, Moschonas N K, Ferák V
Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava.
Hum Genet. 1995 Jan;95(1):112-4. doi: 10.1007/BF00225087.
The restriction fragment length polymorphism haplotypes and seven common mutations in the phenylalanine hydroxylase gene were analysed in 49 unrelated Slovak phenylketonuria (PKU) families of Caucasian origin. The predominant mutation in this population sample is R408W, with a frequency of 45.9%. In addition, four other mutations have been identified at relatively high frequencies: IVS12nt1, 10.2%; R158Q, 7.1%; R261Q, 7.1%; R252W, 2.0%. The mutation-haplotype associations correspond to those described in other European populations. The high proportion of mutations (72.4%) amenable to simple rapid detection based on the polymerase chain reaction provides a good basis for direct DNA-diagnosis of PKU in the Slovak population.
对49个来自斯洛伐克、具有高加索血统的非亲缘苯丙酮尿症（PKU）家庭，分析了苯丙氨酸羟化酶基因的限制性片段长度多态性单倍型和7种常见突变。在这个群体样本中，主要突变是R408W，频率为45.9%。此外，还发现了其他4种相对高频的突变：IVS12nt1，10.2%；R158Q，7.1%；R261Q，7.1%；R252W，2.0%。突变-单倍型关联与其他欧洲人群中描述的一致。基于聚合酶链反应的、易于简单快速检测的突变比例很高（72.4%），为斯洛伐克人群中PKU的直接DNA诊断提供了良好基础。
