Mercier Géraldine, Diéterlen Florent, Lucotte Gérard
Institute of Molecular Anthropology, 44 rue Monge, 75005 Paris, France.
Hum Biol. 2008 Apr;80(2):181-90. doi: 10.3378/1534-6617(2008)80[181:PDOTMA]2.0.CO;2.
Methionine homozygosity at codon 129 of the prion protein gene is a risk factor for Creutzfeldt-Jakob disease. Knowledge of M129V polymorphism in normal populations may contribute to a better understanding of prion diseases. M129V polymorphism was studied in 2201 normal subjects, originating from 15 populations from Europe and the Middle East. Mean heterozygosity in these populations is 38.9%, and there is some significant geographic heterogeneity between them. A comparison of M129 allele frequencies in these 15 populations to those already published for 8 European countries plus Turkey shows significant correlations with both latitude (r = -0.77) and longitude (r = 0.69). The geographic map of methionine allele frequencies indicates an east-west gradient of decreasing methionine allele values from the Middle East to Western Europe.
朊蛋白基因第129密码子的甲硫氨酸纯合性是克雅氏病的一个风险因素。了解正常人群中的M129V多态性可能有助于更好地理解朊病毒疾病。对来自欧洲和中东15个群体的2201名正常受试者进行了M129V多态性研究。这些群体的平均杂合度为38.9%，它们之间存在一些显著的地理异质性。将这15个群体的M129等位基因频率与已公布的8个欧洲国家加土耳其的频率进行比较，发现与纬度（r = -0.77）和经度（r = 0.69）均存在显著相关性。甲硫氨酸等位基因频率的地理图表明，从中东到西欧，甲硫氨酸等位基因值呈东西向递减梯度。
