Erginel-Unaltuna N, Peoc'h K, Komurcu E, Acuner T T, Issever H, Laplanche J L
Department of Genetics, Institute for Experimental Medical Research, Istanbul University, Istanbul, Turkey.
Eur J Hum Genet. 2001 Dec;9(12):965-8. doi: 10.1038/sj.ejhg.5200754.
A polymorphism (M129V) at codon 129 of the prion protein gene (PRNP) results in either a methionine residue (Met) or a valine residue (Val) and is known to determine susceptibility for the development of sporadic or acquired Creutzfeldt-Jakob disease (CJD). The distributions of M129V genotypes and alleles in various general populations have been reported and there are clear differences between Western Europeans and East Asians. We analysed the coding sequence of the PRNP gene in 100 healthy Turkish subjects to determine whether the distributions of the M129V genotypes and alleles or other PRNP gene variants in the Turkish population differ from those in other normal populations. Three known polymorphisms but no other gene variants were detected in the PRNP coding sequence of the Turkish individuals. Genotype frequencies at codon 129 were 57% Met/Met, 34% Met/Val and 9% Val/Val, with an allele frequency of 0.740:0.260 Met:Val. These distributions are considerably different from those reported for other normal populations residing in Western Europe and East Asia, except in Crete. The higher frequency of 129 Met-homozygotes in Turkey than in Western Europe suggests that the Turkish are at greater risk of developing CJD.
朊病毒蛋白基因（PRNP）第129密码子处的一个多态性（M129V）导致甲硫氨酸残基（Met）或缬氨酸残基（Val）的出现，已知其决定散发性或获得性克雅氏病（CJD）发生的易感性。已报道了不同普通人群中M129V基因型和等位基因的分布情况，西欧人和东亚人之间存在明显差异。我们分析了100名健康土耳其受试者的PRNP基因编码序列，以确定土耳其人群中M129V基因型和等位基因或其他PRNP基因变体的分布是否与其他正常人群不同。在土耳其个体的PRNP编码序列中检测到三个已知的多态性，但未检测到其他基因变体。第129密码子处的基因型频率为57% Met/Met、34% Met/Val和9% Val/Val，等位基因频率为0.740:0.260 Met:Val。这些分布与报道的居住在西欧和东亚的其他正常人群的分布有很大不同，但克里特岛除外。土耳其129位Met纯合子的频率高于西欧，这表明土耳其人患CJD的风险更高。
