波兰正常人群及克雅氏病中PRNP基因第129位密码子多态性研究以及PRNP基因新突变的寻找

Codon 129 polymorphism of the PRNP gene in normal Polish population and in Creutzfeldt-Jakob disease, and the search for new mutations in PRNP gene.

作者信息

Bratosiewicz J, Liberski P P, Kulczycki J, Kordek R

机构信息

Department of Molecular Biology, Medical Academy Łódź, 8/10 Czechosłowacka St., 92-216 łódź.

出版信息

Acta Neurobiol Exp (Wars). 2001;61(3):151-6. doi: 10.55782/ane-2001-1397.

DOI:10.55782/ane-2001-1397

PMID:11584448

Abstract

Polymorphism at codon 129 of the prion protein gene (PRNP) is implicated both in susceptibility and phenotype of human prion diseases. We characterized the valine and methionine allele frequency at codon 129 in 109 individuals representing the normal Polish population and in 15 Polish CJD cases. The distribution of the genotype was 45% Met/Met, 39% Met/Val, and 16% Val/Val in the control group whereas, of the CJD cases, 73.3% were homozygous for methionine, 13.3% homozygous for valine and 13.3% were heterozygous. The novel missense mutation (ATG-->ACG) at codon 232 was identified in one of the samples with a GSS phenotype.

摘要

朊病毒蛋白基因（PRNP）第129密码子的多态性与人类朊病毒疾病的易感性和表型均有关联。我们对代表波兰正常人群的109名个体以及15例波兰克雅氏病（CJD）病例中第129密码子的缬氨酸和甲硫氨酸等位基因频率进行了特征分析。对照组中基因型的分布为：45%为甲硫氨酸/甲硫氨酸（Met/Met），39%为甲硫氨酸/缬氨酸（Met/Val），16%为缬氨酸/缬氨酸（Val/Val）；而在CJD病例中，73.3%为甲硫氨酸纯合子，13.3%为缬氨酸纯合子，13.3%为杂合子。在1例具有格斯特曼综合征（GSS）表型的样本中鉴定出了第232密码子的新型错义突变（ATG→ACG）。