【摘要】 目的了解白细胞介素-18(in terleuk ine-18,IL-18)基因编码区105A/C位点多态性在汉族人中的分布频率及其与血清IL-18含量间的关系。方法采用聚合酶链反应-限制性片段长度多态性分析(polym erase cha inreaction-restrictionfragm en t length polym orph ism,PCR-RFLP)的方法,对87例健康个体IL-18编码区105A/C位点基因多态性进行观察,同时检测血清IL-18水平,探讨其与基因型间的关系。结果健康汉族人IL-18编码区105A/C位点基因型以AA型最为多见,占64.4%,其次为AC型和CC型,分别为33.3%和2.3%;等位基因A和C频率分别为81.0%和19.0%。经等级资料和相关分析,IL-18基因编码区105位点A→C单核苷酸突变与血清IL-18含量呈正相关(χ2=6.29,P<0.05,r=0.311)。结论汉族人IL-18基因编码区105A/C位点多态性与其血清含量存在相关性,提示该位点多态性可能与个体在某些疾病遗传易感性方面有一定联系。更多还原

【Abstract】 Objective To investigate whether polymorphism ispresent in the coding regions(105A/C) of the interleukine-18(IL-18) gene inShenzhen Han population,and if so,to further analyze the association between polymorphism and serum IL-18 levels.Methods 87 Chinese Hans persons,IL-18 gene polymorphism(105A/C) in coding region were confirmed bypolymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)technique.The serum IL-18 levels of the subjects were also determined by ELISA.Results In coding region(105A/C)of IL-18 gene the frequency of AA genotype is the highest (64.4%) in Shenzhen Han population,and the frequencies of AC and CC genotype are 33.3% and 2.3% respectively.The frequenciesof alleles A and C are 81.0% and 19.0%,respectively.There is a positive correlation between A→C single nucleotide mutation at 105 site in coding region of IL-18 gene and serum IL-18 levels(χ~2=6.29,P<0.05,r=0.311).Conclusions There is correlation between the 105A/C polymorphism in coding region of IL-18 gene and serum levels of IL-18.This study suggested the possibility that the 105A/C polymorphism of the IL-18 gene might be associated with determining an individual’s susceptibility to some diseases.更多还原