CAJ | 학술논문

目的：探讨人RAC1基因上8个单核苷酸多态性位点的基因型在中国湖北地区汉族健康人群中的分布情况，为进一步研究RAC1基因多态性与相关疾病及药物反应性之间的关系做铺垫。方法：采用实时荧光TaqMan-MGB探针等位基因分型技术测定150例湖北地区健康志愿者的RAC1基因上8个单核苷酸多态性位点的基因型，并采用分片段扩增直接测序方法对上述位点进行抽样验证。结果：所选8个位点均符合Hardy-weinberg 平衡，其中rs10951982与rs9374， rs702482与rs836488位点间高度连锁不平衡，并运用 Heploview 软件筛选出6个 Tag-SNPs：rs10951982、rs6954996、rs6951997、rs12977、rs702482、rs702483。本研究建立的方法能够准确地测定人RAC1基因上的SNP位点的基因分型，所选的人RAC1基因上8个SNP位点在中国湖北地区人群中的最小等位基因频率与Hap Map数据库中北京地区汉族人群、亚洲人群相近，但亦观察到了人种之间的分布差异。结论：所测RAC1基因上8个位点的频率分布在本研究中的湖北人群中未观察到统计学差异，但是与已有数据库中其他人种的MAF比较有较大差异性。
목적：탐토인RAC1기인상8개단핵감산다태성위점적기인형재중국호북지구한족건강인군중적분포정황，위진일보연구RAC1기인다태성여상관질병급약물반응성지간적관계주포점。방법：채용실시형광TaqMan-MGB탐침등위기인분형기술측정150례호북지구건강지원자적RAC1기인상8개단핵감산다태성위점적기인형，병채용분편단확증직접측서방법대상술위점진행추양험증。결과：소선8개위점균부합Hardy-weinberg 평형，기중rs10951982여rs9374， rs702482여rs836488위점간고도련쇄불평형，병운용 Heploview 연건사선출6개 Tag-SNPs：rs10951982、rs6954996、rs6951997、rs12977、rs702482、rs702483。본연구건립적방법능구준학지측정인RAC1기인상적SNP위점적기인분형，소선적인RAC1기인상8개SNP위점재중국호북지구인군중적최소등위기인빈솔여Hap Map수거고중북경지구한족인군、아주인군상근，단역관찰도료인충지간적분포차이。결론：소측RAC1기인상8개위점적빈솔분포재본연구중적호북인군중미관찰도통계학차이，단시여이유수거고중기타인충적MAF비교유교대차이성。
Objective:To establish a method for the detection of 8 single nucleotide polymorphisms (SNPs) of RAC1 gene,and to analyze the genotypic and allelic distributions of the 8 SNPs in healthy Chinese Han population.Methods:The real-time fluorescence TaqMan-MGB probes allele classification technology was used for the determination of the 8 SNPs in 150 cases of healthy volunteers in Hubei China ,and the results were validated by direct gene sequencing.Results: The method established in this study can accurately screen the genotypes of the 8 SNPs of human RAC1 gene.Highly linkage disequilibriums were found between rs 10951982 and rs9374 , rs702482 and 836488 ,respectively.All the 8 sits were in accordance with Hardy-Weinberg equilibrium.Six Tag-SNPs were selected by Heploview software:rs10951982 ,rs6954996 ,rs6951997 ,r1s2977 ,rs702482 and rs702483.The MAFs of the 8 SNPs in our study were close to the MAFs in CHB and Asian in Hap Map database .Significant distribution differences were also observed in different races.Conclusion:No significant differences are observed in this study in healthy Chinese Han population.But differences are found when compared with the data of other races in Hap Map.