CAJ | 학술논문

目的：探讨健康中国汉族人群中basigin(BSG)基因的单核苷酸多态性(single nucleotide polymorphisms，SNPs)发生情况。方法：随机收集48例健康、无亲缘关系的中国汉族人外周血液并提取基因组DNA，设计引物对所有个体BSG基因的启动子区、外显子区和外显子内含子交界区的序列进行PCR扩增和正反向测序，通过判读测序峰图，明确SNPs的发生情况及其频率；通过Hardy-Weinberg平衡分析、单倍型推测和连锁不平衡分析，确定BSG基因位点的单倍型标签SNPs(haplotype tag SNPs，htSNPs)；中性理论检验查明该基因位点SNPs频率分布是否符合选择中性。结果：共发现19个SNPs，其中包括2个新发现的SNPs；所有SNPs位点基因型分布均符合Hardy-Weinberg平衡。该基因位点共推测出4种常见单倍型域，确定9个SNPs为htSNPs。中性理论检验结果提示健康中国汉族人群BSG基因的SNPs分布符合中性进化假说。结论：首次对中国健康汉族人群BSG基因的SNPs进行了发掘，确定了其9个单倍型标签SNPs，为在汉族人群中研究该基因的遗传多态性与疾病易感性或药物反应性个体差异奠定了基础。
목적：탐토건강중국한족인군중basigin(BSG)기인적단핵감산다태성(single nucleotide polymorphisms，SNPs)발생정황。방법：수궤수집48례건강、무친연관계적중국한족인외주혈액병제취기인조DNA，설계인물대소유개체BSG기인적계동자구、외현자구화외현자내함자교계구적서렬진행PCR확증화정반향측서，통과판독측서봉도，명학SNPs적발생정황급기빈솔；통과Hardy-Weinberg평형분석、단배형추측화련쇄불평형분석，학정BSG기인위점적단배형표첨SNPs(haplotype tag SNPs，htSNPs)；중성이론검험사명해기인위점SNPs빈솔분포시부부합선택중성。결과：공발현19개SNPs，기중포괄2개신발현적SNPs；소유SNPs위점기인형분포균부합Hardy-Weinberg평형。해기인위점공추측출4충상견단배형역，학정9개SNPs위htSNPs。중성이론검험결과제시건강중국한족인군BSG기인적SNPs분포부합중성진화가설。결론：수차대중국건강한족인군BSG기인적SNPs진행료발굴，학정료기9개단배형표첨SNPs，위재한족인군중연구해기인적유전다태성여질병역감성혹약물반응성개체차이전정료기출。
Objective:To identify BSG single nucleotide polymorphisms (SNPs) in Chinese Han population. Methods:Peripheral blood samples were collected from 48 unrelated healthy Chinese Han subjects. Sequences at the BSG locus, including the promoter region, all exons and exon-intron boundaries were ampliifed, sequenced and followed by Hardy-Weinberg equilibrium test and linkage disequilibrium (LD) analysis. <br> Results:A total of 19 SNPs were identiifed, 2 of which two were novel. Genotype distributions of all SNPs were consistent with Hardy-Weinberg equilibrium. Four haplotype blocks were constructed throughout the gene locus, and 9 haplotype tag SNPs (htSNPs) were inferred. Distribution of SNPs was in accordance with the neutrality theory in Chinese Han population. Conclusion:For the ifrst time, systematic identiifcation of BSG SNPs in the Chinese Han population has been done, and 9 htSNPs are identified. Our study has provided basis for further genetic association studies for related diseases as wel as pharmacogenetics study for drug response in Chinese Han population.