宁夏回、汉族人群细胞毒性T淋巴细胞相关抗原-4基因多态性分析

The Distribution Traits of Cytotoxic T Lymphocyte-associated Antigen-4 Gene Polymorphism in Ningxia Hui and Han Ethnicities

目的研究CTLA-4基因启动子区-1722(rs733618)、-1661(rs4553808)、-318(rs 5742909)位点及第一外显子区+49(rs221775)位点在宁夏回族、汉族人群中基因型和等位基因频率分布特征。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对210例宁夏回族和315例宁夏汉族CTLA-4基因启动子区(rs733618)、(rs4553808)、(rs5742909)位点及第一外显子区(rs221775)位点分布进行检测。结果 CTLA-4基因4个位点基因型频率及等位基因频率分布在宁夏回族、汉族群体间差异均无统计学意义(P均>0.05)。不同性别CTLA-4基因rs221775、rs5742909、rs4553808 3个位点基因型频率及等位基因频率差异均无统计学意义(P均>0.05),rs733618位点男女间各基因型频率不同(χ2=11.503,P=0.003),而等位基因频率差异无统计学意义(P>0.05)。结论 CTLA-4基因rs221775、rs5742909、rs4553808、rs733618位点基因型频率及等位基因频率在宁夏回族、汉族群体间的分布特征相同,rs733618位点基因型分布频率有性别间差异。

Objective To investigate the distribution traits of genotype and allele frequencies of cytotoxic T lymphocyte- associated antigen- 4 gene promoter region- 1722( rs7336118),- 1661( rs4553808),- 318( rs5742909) and exon 1 region + 49( rs221775) polymorphism in Ningxia Hui and Han ethnicities. Methods PCR- RFLP method was used to determine the distribution of CTLA- 4 gene promoter region rs7336118,- 1661,- 318 and exon 1 region + 49 polymorphisms in 208 cases of Hui nationality and 317 cases of Han ethnicities. Results The genotype frequencies and allele frequencies of CTLA- 4 gene rs221775,rs5742909,rs4553808,rs733618 were not significantly different between Hui ethnicity and Han ethnicity( P > 0. 05). With the combination of Hui and Han ethnicity of Ningxia,and then divide into two groups as sex,the genotype and allele frequencies of CTLA- 4 gene rs221775,rs5742909,rs4553808 were no significant difference between Hui and Han ethnicity( P > 0. 05),but the frequency of CC genotype at the rs733618 position in female was statistically higher than male( 16. 08% vs 7. 11%,χ2= 5. 988,P = 0. 014). Although there was no significant difference between female and male in the frequency of the C allele at the rs733618position( χ2= 2. 162,P = 0. 141),it showed that the female subjects tended to carry more C allele. Conclusion The distribution traits of allele and genotype frequencies of CTLA- 4 gene rs221775,rs5742909,rs4553808,rs733618 positions may be similar with Hui and Han ethnicities in Ningxia,but there was significant difference between female and male in the frequency of the CC genotype at the rs733618 position.