CAJ | 학술논문

目的：了解白细胞介素-18(IL-18)基因单核苷酸多态性(SNP)各等位基因及基因型在中国桂西地区壮族人群中的分布频率，比较其在不同种族间分布的差异。方法：采用单碱基延伸的 PCR 技术和 DNA 测序法检测150例桂西地区壮族人群的 IL-18基因 rs360722G/A多态性，并与人类基因组计划(Hapmap)公布的四组人群(中国北京汉族人、非洲黑人、欧洲白种人和日本东京人)的 SNP 分型数据中该基因的基因型及等位基因的分布频率进行比较分析。结果：中国桂西地区壮族人群IL-18 rs360722基因型GG、GA、AA频率分别为39.3%、48.7%和12.0%；等位基因G、A 频率分别为63.7%和36.3%，男女性别间比较差异无统计学意义(P>0.05)；但与欧洲白种人、非洲黑人和北京汉族人群比较，其基因型和等位基因分布频率的差异均有统计学意义(P<0.05)。结论：中国桂西地区壮族人群中存在的IL-1 8基因多态性差异可能是一些疾病的临床表现与其它地区或种族有所不同的原因之一。
목적：료해백세포개소-18(IL-18)기인단핵감산다태성(SNP)각등위기인급기인형재중국계서지구장족인군중적분포빈솔，비교기재불동충족간분포적차이。방법：채용단감기연신적 PCR 기술화 DNA 측서법검측150례계서지구장족인군적 IL-18기인 rs360722G/A다태성，병여인류기인조계화(Hapmap)공포적사조인군(중국북경한족인、비주흑인、구주백충인화일본동경인)적 SNP 분형수거중해기인적기인형급등위기인적분포빈솔진행비교분석。결과：중국계서지구장족인군IL-18 rs360722기인형GG、GA、AA빈솔분별위39.3%、48.7%화12.0%；등위기인G、A 빈솔분별위63.7%화36.3%，남녀성별간비교차이무통계학의의(P>0.05)；단여구주백충인、비주흑인화북경한족인군비교，기기인형화등위기인분포빈솔적차이균유통계학의의(P<0.05)。결론：중국계서지구장족인군중존재적IL-1 8기인다태성차이가능시일사질병적림상표현여기타지구혹충족유소불동적원인지일。
Objective:To study the frequencies of allele and genotype distribution of interleukin-18 (IL-18)gene promoter region single nucleotide polymorphism (SNP)in the west of guangxi zhuang populations in china,and to analyze the distributions of IL-18 polymorphism among different races.Method:The IL-18 gene promoter region rs360722 G/A polymorphism was examined by the polymerase chain reaction-single base extension (PCR-SBE)technique and DNA sequencing methods in 150 the west of guangxi zhuang populations,frequencies of allele and genotype of IL-18 gene rs360722 G/A polymorphism were analyzed for the west of guangxi zhuang populations compared with other the four populations (HapMap-HCB,HapMap-YRI,HapMap-CEU and HapMap-JPT)from human genome project group (Hapmap)data.Results:IL-18 genotype frequencies of GG,GA and AA were 39.3%,48.7% and 12.0%, and allele frequencies of G and A were 63.7% and 36.3% in the west of guangxi zhuang populations respectively. The frequencies of genotype of IL-18 gene rs360722 G/A polymorphism were not significant difference between male and female group (P>0.05).The frequencies of allele and genotype distribution of IL-18 gene rs360722 G/A poly-morphism were significant difference compared with HapMap-CEU,HapMap-YRI and HapMap-HCB populations (P<0 .0 5 ).Conclusion:There are IL-1 8 gene polymorphism in the west of guangxi zhuang populations,the frequencies of polymorphism distribution of IL-1 8 are significantly difference compared with others ethnic populations.It might be one of the reasons why the clinical spectrunm of some IL-1 8 related diseases is different among different races.