【摘要】 目的:检测1例可能克-雅氏病患者朊蛋白基因(PRNP)外显子。方法:抽取患者外周静脉血,提取DNA,PCR法扩增PRNP外显子后直接测序,并用限制性内切酶NspI检测PRNP129位点密码子基因型。结果:PRNP129位点密码子基因型为甲硫氨酸纯合型。患者第256-第279碱基丢失,引起氨基酸序列第54-第61个氨基酸缺失。结论:朊蛋白基因外显子中24bp缺失和129位点密码子基因型为甲硫氨酸纯合型可能与朊蛋白病发病有关。更多还原

【Abstract】 Aim: To study 24 bp deletion of prion protein gene in a patient with possible Creutzfeldt-Jakob disease. Methods: Prion protein gene open reading frame was amplified by PCR of genomic DNA extracted from peripheral blood leukocytes. Products were sequenced and digested with restriction endonuclease NspI to check the phenotype at codon 129. Results: Analysis of PRNP of this patient demonstrated 24bp deletion of prion protein gene and methionine homozygosity at codon 129. Conclusion: Incidence of prion disease might be associated with 24bp deletion of prion protein gene and methionine homozygosity at codon 129.更多还原