中国广西人群中RTN4基因遗传多态性的研究

目的:研究RTN4基因rs2920891A/C和rs17046647A/G位点多态性在广西人群中的分布特征,比较不同人群的分布差异。方法:本实验采用多重单碱基延伸PCR(SNa Pshot)和DNA测序方法,对323例广西健康体检者RTN4基因的rs2920891A/C和rs17046647A/G位点基因型进行检测,并与国际人类基因组单体型图计划(Hap Map)公布的不同人群(北京、日本、欧洲及非洲人群)RTN4基因多态性数据进行比较。结果:在广西人群中,RTN4基因rs2920891A/C位点存在AA、AC、CC基因型及A、C等位基因,其等位基因频率在男女间的分布差异有统计学意义(P0.05),基因型及等位基因频率与日本、欧洲及非洲人群比较差异均有统计学意义(P0.05);rs17046647A/G位点存在AA、AG、GG基因型和A、G等位基因,基因型及等位基因频率在男女间比较差异无统计学意义(P0.05),而与日本、欧洲及非洲人群比较差异均有统计学意义(P0.01)。结论:中国广西人群中RTN4基因的rs2920891A/C和rs17046647A/G位点多态性与其他种族间存在差异性。

Genetic polymorphisms of RTN4 gene in Chinese Guangxi population

AIM: To investigate the distribution characteristics of rs2920891A/C and rs17046647A/G polymorphisms of RTN4 gene in Guangxi population, and to compare the differences among different populations. METHODS: The genotypes of RTN4 gene at rs2920891A/C and rs17046647A/G in 323 healthy persons of Guangxi were performed by the technique of SNaPshot and DNA sequencing. The results were compared with the alleles and genotypes of other populations (HapMap-CEU, HapMap-HCB, HapMap-JPT and HapMap-YRI in HapMap). RESULTS: In Guangxi population, 3 genotypes, AA, AC and CC, and 2 alleles, A and C, were found in rs2920891A/C. The allele frequencies between male and female showed significant differences (P<0.05). The genotype and allele frequencies compared with HapMap-JPT, HapMap-CEU and HapMap-YRI had differences with statistical significance (P<0.05). Three genotypes, AA, AG and GG, and 2 alleles, A and G, were found in rs17046647A/G. The genotype and allele frequencies between male and female showed no significant differences (P>0.05), but there were significant differences of the genotype and allele frequencies as compared with HapMap-JPT, HapMap-CEU and HapMap-YRI (P<0.01).CONCLUSION: The rs2920891A/C and rs17046647A/G polymorphisms of RTN4 gene in Chinese Guangxi population are different from those in other races.