GENETIC ANALYSIS OF THE PRNP GENE IN KURU

PRNP基因编码甲硫氨酸或缬氨酸的密码子129多态性 已被证明影响疾病表型，并发挥重要作用， 在散发性、医源性和可能“新” 克雅氏病（Creutzfeldt-Jakob disease，nvCJD） 之时尚 甲硫氨酸纯合子患者已在散发和 nvCJD患者。 在医源性克雅氏病患者中，纯合子的患病率 对于蛋氨酸或缬氨酸等位基因，已经显示。 为了 研究假设，如果在密码子129的纯合基因型， PRNP基因是库鲁病发生易感因素，40库鲁病 与健康的Fore对照组相比。 缬氨酸等位基因的患病率为 在Fore人群控制和库鲁病患者中检测到。

Polymorphism at codon 129 encoding methionine or valine of the PRNP gene has been shown to influence the disease phenotype and play an important role in susceptibility to sporadic, iatrogenic and probably "new variant" Creutzfeldt-Jakob disease (nvCJD). The prevalence of methionine homozygous patient has been established among sporadic and nvCJD patients. In iatrogenic CJD patients the prevalence of homozygous for either methionine or valine allele has been shown. In order to investigate the hypothesis if the homozygous genotype at codon 129 of the PRNP gene was a predisposing factor in developing of kuru, 40 kuru compared to healthy Fore controls. The prevalence of valine allele was detected in Fore population controls and kuru patients.