CAJ | 학술논문

目的：分析骨桥蛋白基因单核苷酸多态性（SNP）位点 rs11728697和 rs9138的基因型和等位基因型在广西壮族人群中的分布频率，对比其在不同国家或地区人群间的分布差异。方法利用 SNaPshot SNP 分型技术检测150例广西壮族骨桥蛋白基因 SNP 位点 rs11728697和 rs9138的基因型，对比国际人类基因组单倍型图谱计划（HapMap）上4个人群（欧洲人群、非洲人群、日本人群和中国北京人群）的 SNP 分型数据，分析5个人群的骨桥蛋白基因 SNP 位点 rs11728697和 rs9138的基因型和等位基因频率差异。结果在广西壮族人群中，骨桥蛋白基因 rs11728697位点的 CC 基因型最常见，约为42．7％；C 等位基因的频率最高，约为62．7％。 rs9138位点的 CA 基因型最常见，约为51．3％；C 等位基因的频率最高，约为63．0％。骨桥蛋白基因型及等位基因频率男女组间比较差异无统计学意义（P＞0．05）。广西壮族人群骨桥蛋白基因 rs11728697位点的基因型和等位基因频率与欧洲人群、日本人群和非洲人群的差异有统计学意义（P＜0．05），而与中国北京人群的差异无统计学意义（P＞0．05）。广西壮族人群骨桥蛋白基因 rs9138位点的基因型和等位基因频率与欧洲人群和非洲人群的差异有统计学意义（P＜0．05），而与日本人群和中国北京人群的差异无统计学意义（P＞0．05）。结论骨桥蛋白基因 SNP 位点 rs11728697和 rs9138基因型和等位基因在广西壮族人群中的分布频率与不同国家或地区人群相比存在差异，这种差异可能是导致某些疾病在不同国家或地区间发病率和临床表现存在差异的因素之一。
목적：분석골교단백기인단핵감산다태성（SNP）위점 rs11728697화 rs9138적기인형화등위기인형재엄서장족인군중적분포빈솔，대비기재불동국가혹지구인군간적분포차이。방법이용 SNaPshot SNP 분형기술검측150례엄서장족골교단백기인 SNP 위점 rs11728697화 rs9138적기인형，대비국제인류기인조단배형도보계화（HapMap）상4개인군（구주인군、비주인군、일본인군화중국북경인군）적 SNP 분형수거，분석5개인군적골교단백기인 SNP 위점 rs11728697화 rs9138적기인형화등위기인빈솔차이。결과재엄서장족인군중，골교단백기인 rs11728697위점적 CC 기인형최상견，약위42．7％；C 등위기인적빈솔최고，약위62．7％。 rs9138위점적 CA 기인형최상견，약위51．3％；C 등위기인적빈솔최고，약위63．0％。골교단백기인형급등위기인빈솔남녀조간비교차이무통계학의의（P＞0．05）。엄서장족인군골교단백기인 rs11728697위점적기인형화등위기인빈솔여구주인군、일본인군화비주인군적차이유통계학의의（P＜0．05），이여중국북경인군적차이무통계학의의（P＞0．05）。엄서장족인군골교단백기인 rs9138위점적기인형화등위기인빈솔여구주인군화비주인군적차이유통계학의의（P＜0．05），이여일본인군화중국북경인군적차이무통계학의의（P＞0．05）。결론골교단백기인 SNP 위점 rs11728697화 rs9138기인형화등위기인재엄서장족인군중적분포빈솔여불동국가혹지구인군상비존재차이，저충차이가능시도치모사질병재불동국가혹지구간발병솔화림상표현존재차이적인소지일。
Objective To investigate the genotype and allele frequencies of osteopontin gene single nucleotide polymorphisms (SNP) rs11728697and rs9138 in Zhuang populations in Guangxi ,and to compare the distribution of osteopontin polymorphisms a‐mong different races .Methods The osteopontin gene rs11728697 and rs9138 polymorphisms were detected by SNaPshot SNP gen‐otyping technique in 150 Zhuang populations in Guangxi ,the genotype and allele frequencies of osteopontin gene rs 11728697 and rs9138 polymorphisms were analyzed in Zhuang populations compared with the other four populations (HapMap‐CEU ,HapMap‐YRI ,HapMap‐JPT ,HapMap‐HCB) from HapMap database .Results The most common genotype and allele of osteopontin gene rs11728697 polymorphism in Zhuang populations in Guangxi were CC(42 .7% ) and C(62 .7% ) ,and the most common genotype and allele of osteopontin gene rs9138 polymorphism were CA (51 .3% ) and C(63 .0% ) .There were no significant differences in the gen‐otype and allele frequencies of osteopontin gene rs11728697 and rs9138 polymorphisms between male and female groups ( P >0 .05) .The genotype and allele frequencies of osteopontin gene rs11728697 polymorphism were significantly differenct compared with HapMap‐CEU ,HapMap‐JPT and HapMap‐YRI(P< 0 .05) ,but were not significantly different compared with HapMap‐HCB (P> 0 .05) .The genotype and allele frequencies of osteopontin gene rs9138 polymorphism were significantly differenct compared with HapMap‐CEU and HapMap‐YRI(P < 0 .05) ,but had no significantly different compared with HapMap‐JPT and HapMap‐HCB(P> 0 .05) .Conclusion There are significant differences in the genotype and allele frequencies of osteopontin gene rs 11728697 and rs9138 polymorphisms between Zhuang populations and other ethnic populations ,and this variation might contribute for a varie‐ty of clinical manifestation and morbidity of some osteopontin related diseases .