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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 distribution characteristics and differences of GGCX polymorphism loci in Kazak and Han nationality in Xinjiang region. Methods Genomic DNA was extracted from 305 healthy subjects in Kazakh and Han nationality in Xinjiang using standard phenol-chloroform method. Two genotypes of GGCX were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) (Rs11676382 and rs6751560) were used to monitor the gene polymorphism. The genotypes were calculated and the differences in the distribution of the genetic polymorphisms between the two ethnic groups were compared. Results There were 66 cases (21.64%), 233 cases (76.39%) and 6 cases (1.97%) of rs11676382 genotypes CC, CG and GG in Kazakh population respectively. The frequencies of C and G alleles were 59.84% 83.50%, respectively. There were 209 (68.30%), 93 (30.39%) and 4 (1.31%) Han patients, respectively. The frequencies of C and G alleles were 40.16% and 16.50% respectively. There were 2 cases (0.66%), 11 cases (3.61%) and 292 cases (95.74%) of rs6751560 genotypes AA, AG and GG in Kazaks respectively. The frequencies of A and G alleles were 2.46% and 97.54 %. There were 4 cases (1.31%), 3 cases (0.98%) and 298 cases (97.70%) of AA, AG and GG in Han nationality respectively. The frequencies of A and G alleles were 1.80% and 98.20% The genotypes of rs11676382 in Kazak and Han population were significantly different (χ2 = 134.9, P <0.01), CC and CG + GG in dominant model, GG and CC + CG in recessive model, CG CC + GG showed that there was significant difference between the dominant model and the additional model (χ2 = 134.4 and 129.9, P <0.01), and there was significant difference between allele C and G (χ2 = 84.3, P <0.01). rs11676382 locus recessive model and rs6751560 locus genotype and allele differences were not statistically significant. Conclusion The rs11676382 locus of Kazak and Han nationality in Xinjiang is more common in CC and CG genotypes, and the frequency of C allele is higher than that in G allele. CC genotype is the protective factor while CG genotype is Risk factors, GG genotype is neither a protective factor nor a risk factor. Two genotypes rs6751560 locus GG genotype common, A and G alleles appear the same frequency.