Zygulska M, Eigel A, Dworniczak B, Sutkowska A, Pietrzyk J J, Horst J
Department of Medical Genetics, Medical Academy, Krakow, Poland.
Hum Genet. 1991 Nov;88(1):91-4. doi: 10.1007/BF00204935.
In order to investigate the molecular basis of phenylketonuria (PKU) in the Polish population, we screened 44 mutant chromosomes from PKU probands for six known mutations, frequently occurring in western European countries, by polymerase chain reaction amplification of their genomic DNA and hybridization with allele-specific oligonucleotides. Our results show that the majority (66%) of all PKU alleles are characterized by three different mutations: in codon 408 (56.8%), codon 158 (6.8%) and codon 261 (2.27%). Of the mutant haplotype 2 alleles, 96% were linked to the mutation in codon 408. Out of five mutant haplotype 4 alleles, three showed the codon 158 mutation, and out of four mutant haplotype 1 alleles, one had the codon 261 mutation. In two families, MspI digests revealed an additional 13.5-kb band similar in length to that previously reported. However, analysis of exon 9 excluded the presence of the T to C transition originally described, indicating a new MspI variant in the Polish population.
为了研究波兰人群中苯丙酮尿症（PKU）的分子基础，我们通过聚合酶链反应扩增PKU先证者的基因组DNA，并与等位基因特异性寡核苷酸杂交，对44条来自PKU先证者的突变染色体进行了六种在西欧国家常见的已知突变的筛查。我们的结果表明，所有PKU等位基因中的大多数（66%）具有三种不同的突变特征：密码子408（56.8%）、密码子158（6.8%）和密码子261（2.27%）。在突变单倍型2等位基因中，96%与密码子408的突变相关联。在五个突变单倍型4等位基因中，三个显示密码子158突变，在四个突变单倍型1等位基因中，一个具有密码子261突变。在两个家族中，MspI消化显示出一条额外的13.5 kb条带，其长度与先前报道的相似。然而，对第9外显子的分析排除了最初描述的T到C转换的存在，表明在波兰人群中存在一种新的MspI变体。
