FOXP3基因多态性在广西壮族女性人群中的分布

Distribution of FOXP3 gene polymorphisms among Zhuang women in Guangxi

目的探讨FOXP3单核苷酸多态性(single nucleotide polymorphisms,SNPs)在广西壮族女性人群的分布频率,并与其他人群比较分析基因遗传异质性。方法运用iMLDR技术和DNA测序检测200例广西壮族女性人群中的rs2280883和rs3761549基因型和等位基因频率,并与PubMed数据库公布的千人基因组计划人群进行比较。结果在广西壮族女性人群中,rs2280883主要以TT基因型(71.5%)为主,rs3761549主要以GG基因型(62.5%)为主。rs2280883基因型和等位基因与非洲人群、美国人群、欧洲人群和南亚人群分布频率差异有统计学意义(P<0.05)。rs3761549基因型与非洲人群、美国人群、欧洲人群和南亚人群分布频率差异有统计学意义(P<0.05);rs3761549等位基因与美国人群、欧洲人群和南亚人群分布频率差异有统计学意义(P<0.05)。结论在广西壮族女性人群中,FOXP3存在rs2280883和rs3761549多态性,并且与其他种族地区(非洲、美国、欧洲和南亚)存在基因遗传异质性。

Objective To investigate the distribution frequency of FOXP3 single nucleotide polymorphism(SNP)among Zhuang women in Guangxi,and to analyze their genetic heterogeneity by comparing with populations from other ethnic regions.Methods iMLDR techniques and DNA sequencing were used to detect rs2280883 and rs3761549 genotypes and allele frequencies in 200 Zhuang women in Guangxi and compared with population of the 1000 Genomes Project published in PubMed database.Results Among Zhuang women in Guangxi,TT genotype(71.5%)was the main genotype of rs2280883,and GG genotype(62.5%)was the main genotype of rs3761549.The distribution frequency of rs2280883 genotypes and alleles were significantly different from those in Africa,the United States,Europe and South Asia(P<0.05).The distribution frequency of rs3761549 genotype was significantly different from those of population in Africa,the United States,Europe and South Asia(P<0.05).In addition,the distribution frequency of rs3761549 allele was significantly different from those of population in the United States,Europe and South Asia(P<0.05).Conclusion Among Zhuang women in Guangxi,FOXP3 has rs2280883 and rs3761549 polymorphisms,and there are genetic heterogeneity with other ethnic regions(Africa,the United States,Europe and South Asia).