克—雅氏病患者叠朊蛋白基因多态性的研究  

Study on polymorphisms of the prion-like protein gene in patients with Creutzfeldt-Jakob disease

作　　者：樊丽超[1] 赵节绪[2] 左秀美[3] 刘峥[3] 

机构地区：[1]首都医科大学附属北京朝阳医院京西院区,北京100043 [2]吉林大学第一医院 [3]首都医科大学宣武医院

出　　处：《山东医药》2011年第51期5-6,共2页Shandong Medical Journal

基　　金：国家自然科学基金青年科学基金项目(30800351)

摘　　要：目的探讨叠朊蛋白基因(PRND)与克—雅氏病(CJD)易感性的关系。方法应用聚合酶链式反应—限制性片段长度多态性(PCR-RFLP)方法,对15例CJD患者(观察组)和15例查体健康者(对照组)的PRND第56位点进行基因多态性分型,统计学方法分析多态性与CJD发病的关系;应用PCR法扩增观察组PRND基因,进行测序。结果对一个家系的2例疑诊家族性CJD患者行PRND基因测序发现,其均有一少见突变,观察组PRND第56位点脯氨酸/亮氨酸杂合子的基因型频率明显高于与对照组(P<0.05)。结论 PRND56位点基因多态性可能与CJD有关。Objective To investigate the association between polymorphisms of the prion-like protein gene（PRND） and Creutzfeldt-Jakob disease（CJD）.Methods PCR method was adopted for PRND gene sequencing on 15 CJDs（observed group） and 15 healthy controls（control group）,RFLP was used to analyze the polymorphism of 56 encoded subpoints.By genetic statistical assay,the association between these polymorphisms and the risk for CJD.Results Most likely heredofamilial were found during PRND gene sequencing,in two case of very rare mutation.Compared with the control group,proline/leucine heterozygotes of 56 encoded subpoints appeared with a higher frequency in observed group.Conclusions Polymorphisms at codons 56 of the prion-like protein gene are associated with CJD.

关 键 词：克—雅氏病 叠朊蛋白基因 多态性 

分 类 号：R745[医药卫生—神经病学与精神病学]