目的了解白细胞介素-31(IL-31)基因单核苷酸多态性(SNP)各等位基因和基因型在广西地区人群中的分布频率,同时比较其在不同种族人群之间分布的差异。方法采用单碱基延伸的PCR技术(PCR-SBE),对来自广西各地区的197例健康人群的IL-31基因rs10847385A/C多态性进行了检测,并将结果同人类基因组计划公布的欧洲人、非洲人、日本人和中国北京人等四个种族人群的SNP分型数据进行比较,分析不同种族人群的等位基因和基因型分布频率的差异。结果在中国广西地区人群中存在着IL-31基因rs10847385A/C多态性。其等位基因和基因型分布频率在男女组间比较差异均无统计学意义(P〉0.05),但该多态性位点等位基因和基因型的分布频率与非洲和日本人群比较,差异均有统计学意义(P〈0.05),而与欧洲和中国北京人群相比,差异均无统计学意义(P〉0.05)。结论在中国广西人群中存在IL-31基因多态性,且与性别不存在相关性,但与其他种族人群比较存在显著差异,这种差异可能导致一些疾病在不同种族间的发病率和临床表现存在显著不同。
Objective To study the frequencies of allele and genotype distribution of interleukin-31( IL-31) gene single nucleotide polymorphism( SNP) of people in Guangxi,and to analyze distributions of IL-31 polymorphism among different ethnic groups. Methods Polymorphism of IL-31 gene rs10847385 A / C of 197 people in Guangxi were examined by polymerase chain reaction-single base extension( PCR-SBE) technique. And the results were compared with the SNP genotyping data of European,African,Japanese and Beijing people,which were published by Human Genome Project( HGP). Then,difference of frequencies of allele and genotype distribution among different ethnic groups were analysed. Results Polymorphism of IL-31 gene rs10847385 A / C was found in people of Guangxi. The frequencies of allele and genotype of IL-31 gene rs10847385 A / C polymorphism showed no significant difference between male and female( P〉0. 05). Significant difference was found in frequencies of allele and genotype distribution of IL-31 gene rs10847385 A / C polymorphism when they were compared with those of African and Japanese( P〈0. 05). However,difference was not statistically significant when they were compared with those of European and people in Beijing( P〉0. 05). Conclusion IL-31 gene polymorphism is found in Guangxi population,and it is not related to gender. But it is significantly different from those of other ethnic groups. And those differences might account for obviously different incidence and clinical manifestations of some diseases among different ethnic groups.