摘要
目的探讨STK11单核苷酸多态性位点(single nucleotide polymorphisms,SNPs)rs2019107和rs741765在广西壮族正常女性人群中的分布情况,并与其他人群比较分析,为研究不同地区STK11基因突变与疾病易感性的关系提供参考依据。方法采用iMLDR技术检测351例广西壮族正常女性人群STK11基因rs2019107和rs741765位点的基因型,DNA测序技术验证,计算这两个位点的基因型和等位基因频率,并与千人基因组计划数据库中不同人群进行比较。结果广西壮族正常女性人群中rs2019107和rs741765主要以TC基因型(52.99%和50.71%)为主。rs2019107基因型与美国、欧洲和印度正常女性人群分布频率差异有统计学意义(P<0.05),等位基因与欧洲人群正常女性分布频率差异有统计学意义(P<0.05)。rs741765基因型和等位基因均与非洲、美国、北京汉族、欧洲和印度正常女性人群分布差异有统计学意义(P<0.05)。结论在广西壮族正常女性人群中,STK11基因rs2019107和rs741765存在遗传多态性,其基因型和等位基因具有种族差异。
Objective To investigate the distribution of single nucleotide polymorphisms(SNPs)loci rs2019107 and rs741745 of STK11 gene in normal females of Guangxi Zhuang ethnic group and to compare it with that of different ethnic groups.It aims to provide a reference for studying the relation between STK11 gene mutation and disease susceptibility in different regions.Methods The iMLDR technique was used to detect the genotypes of STK11 rs2019107 and rs741765 in 351 normal females of Guangxi Zhuang ethnic group.DNA sequencing was used for verification.The genotypes and allele frequencies of the two loci were calculated and compared with those of different populations in the Thousand Genome Project database.Results TC(52.99%and 50.71%)was the main genotype of rs2019107 and rs741765 in normal female population of Guangxi Zhuang ethnic group.The rs2019107 genotype of normal female population of Guangxi Zhuang ethnic group was significantly different from those of normal female population in The United States,Europe and India(P<0.05),and the distribution frequency of rs2019107 allele was significantly different from that of European population(P<0.05).The genotypes and alleles of rs741765 were significantly different from those of normal female populations in Africa,America,Beijing,Europe and India(P<0.05).Conclusion The genetic polymorphism of STK11 rs2019107 and rs741765 is found in normal female population of Guangxi Zhuang ethnic group,and the genotypes and alleles of STK11 gene have racial differences.
作者
凌永嫦
仇雯丽
王俊利
李妹燕
Ling Yongchang;Chou Wenli;Wang Junli;Li Meiyan(The Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China;Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China)
出处
《右江民族医学院学报》
2021年第5期622-626,共5页
Journal of Youjiang Medical University for Nationalities
基金
2021年研究生教育创新计划项目(YCSW2021344)。
