新疆地区哈萨克族和汉族人群中GGCX基因多态性分析

Analysis of GGCX gene polymorphism in Kazakh,Han population in Xinjiang area

目的探讨γ-谷氨酰基羧化酶(Gamma-glutamyl carboxylase,GGCX)基因多态位点在新疆地区哈萨克族、汉族人群中的分布特点及其差异。方法采用标准酚-氯仿法提取新疆地区哈萨克、汉族各305例健康人外周血基因组DNA,应用多聚酶链反应-限制性内切酶长度片段多态性(PCR-RFLP)技术对GGCX的2个单核苷酸位点(rs11676382和rs6751560)进行基因多态性监测,计算其基因型,并比较2个民族人群中基因多态性分布的差异。结果 rs11676382基因型CC、CG和GG在哈萨克族人群中分别有66例(21.64%)、233例(76.39%)和6例(1.97%),C和G等位基因的频率分别为59.84%和83.50%;在汉族人群中分别有209例(68.30%)、93例(30.39%)和4例(1.31%),C和G等位基因的频率分别为40.16%和16.50%。rs6751560基因型AA、AG和GG在哈萨克族人群中分别有2例(0.66%)、11例(3.61%)和292例(95.74%),A和G等位基因的频率分别为2.46%和97.54%;在汉族人群中AA、AG和GG分别有4例(1.31%)、3例(0.98%)和298例(97.70%),A和G等位基因的频率分别为1.80%和98.20%;哈萨克族人群与汉族人群rs11676382位点基因型比较差异有统计学意义(总χ2=134.9,P<0.01),显性模型CC与CG+GG、隐性模型GG与CC+CG、附加模型CG与CC+GG之间比较显示,显性模型和附加模型比较差异有统计学意义(χ2=134.4和129.9,P<0.01),等位基因C与G比较差异有统计学意义(χ2=84.3,P<0.01)。rs11676382位点隐性模型和rs6751560位点基因型及等位基因差异均无统计学意义。结论新疆地区哈萨克族与汉族人群rs11676382位点均以CC和CG基因型比较常见,C等位基因出现的频率比G等位基因出现的频率高;CC基因型是保护因素,而CG基因型是危险因素,GG基因型既不是保护因素,又不是危险因素。2个民族人群中rs6751560位点以GG基因型常见,A和G等位基因出现的频率相等。

Objective To investigate the distributive characteristics of gamma glutamyl carboxylase （Gam-ma-glutamyl carboxylase,GGCX）gene polymorphisms in Xinjiang Kazakh,Han population,and compare the differences between the 2 ethnic groups.Methods The blood samples of healthy human peripheral blood genomic DNA were collected by standard phenol chloroform extraction from 305 cases of Xinjiang Kazakh and Hans and were examined by,polymerase chain reaction restriction fragment length polymor-phism （PCR-RFLP）technique in 2 nucleotide sites on GGCX （respectively：rs11676382,rs6751560）for monitoring gene polymorphism. Then we calculated its genotype, and compared polymorphism distribution between the 2 ethnic groups.Results rs11676382 genotype CC,CG and GG in Kazakh popu-lation were 66 cases （21.64%）,233 cases （76.39%）and 6 cases （1.97%）,C and G allele frequencies were 59.84% and 83.50%,209 cases （68.30%）,93 cases （30.39%）and 4 cases （1.31%）respectively in the Han nationality,C and G allele frequencies were 40.16% and 16.50%;rs6751560 genotype in Kazakh pop-ulation of AA,AG and GG were 2 cases （0.66%）,11 cases （3.61%）and 292 cases （95.74%）,A and G allele frequencies were 2.46% and 97.54%,in Chinese Han population in AA,AG and GG were 4 cases （1. 31%）,3 cases （0.98%）and 298 cases （97.70%）,A and G allele frequencies were 1.80% and 98.20%;there is statistically significant difference when we compare the rs11676382 genotype （χ2=134.88,P 〈 0. 01）.In further comparison between the dominant mode of CC and CG＋GG,GG and CC＋CG recessive model,were compared between CG and CC＋GG ,there was significant difference between dominant mod-el and additional model difference （χ2=134.4 and 129.88,P〈0.01）,statistically significant between allele C and G （χ2=84.26,P 〈0.01）.But differences in allele rs11676382 locus recessive model and rs6751560 genotype were not statistically significant.Conclusion rs11676382 loci,CC and CG genotypes are more common in Xinjiang Kazak and Han.The frequency of C is higher than the G allele.CC genotype ia a pro-tective factor,while the CG genotype is a risk factor.GG genotype is neither protective factor nor risk fac-tor.The GG polymorphism in rs6751560 gene is common in two ethnic groups and the frequency of A and G alleles is same.