基因型
遗传学
等位基因
基因型频率
人口
等位基因频率
基因
生物
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创始人效应
单倍型
医学
肽序列
环境卫生
作者
Byung‐Hoon Jeong,Nam‐Ho Kim,Jae‐Il Kim,Richard I. Carp,Yong‐Sun Kim
标识
DOI:10.1007/s10038-005-0254-8
摘要
Association between sporadic Creutzfeldt-Jakob disease (CJD) and the prion-like protein gene (PRND) has been reported in the German population. To investigate whether the PRND polymorphisms are associated with an increased risk for developing sporadic CJD in the Korean population, we compared the genotype and allele frequencies of PRND polymorphisms in 110 sporadic CJD patients with those in 102 healthy Koreans. Two polymorphisms (P56L, T174 M) in Koreans were found in the open reading frame (ORF) of PRND. One heterozygote of P56L was observed in normal controls but not in sporadic CJD patients. A strong significant difference of PRND genotype frequency at codon 174 was found between the normal Korean population and various European populations. In contrast to results in the German population, our study did not show a significant difference in PRND genotype or allele frequency at codon 174 between sporadic CJD and normal controls. This was the first genetic association study of the ORF of PRND in an Asian CJD population.
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