中国健康人PrP基因129位点密码子多态性研究

Studies on polymorphism at codon 129 of prion protein gene of the normal population in China

目的 探索中国健康人PrP基因 12 9位点密码子的多态性。方法 取 6 0名健康人基因组后 ,用PCR法扩增PrP基因的外显子 ,最后用NspⅠ酶切 ,进而对PrP基因 12 9位点多态性进行分析。 结果 6 0例健康人中 ,5 2例为甲硫氨酸(Met) /甲硫氨酸 (Met) ,8例为甲硫氨酸 (Met) /缬氨酸 (Val)。结论 东西方人PrP基因 12 9位点密码子Met/Met型、Met/Val型与Val/Val比例不同 ,而且根据现有报道东方人中缺乏Val/Val型。

Objective To explore the polymorphism at codon 129 of prion protein gene of the normal population in China.Methods Genomic DNA from 60 health Chinese was used to amplify prion protein gene in the polymerase chain reaction.The codon 129 genotype was examined by digestion with the restriction endonuclease NspⅠ.Results Among 60 cases,52 cases were methionine(Met/Met)homozygous at codon 129,8 cases were heterozygous(Met/Val).Conclusion There is different genotype frequency of Met/Met,Met/Val and Val/Val between the populations in western countries and that in Eastern countries.And,so far,there is no Val/Val in the oriantals reported.