目的 研究Rac1基因中7个单核苷酸多态性(single nucleotide polymorphism,SNP)位点在湖北汉族肾移植患者中的分布特点,为探讨Rac1基因多态性与肾移植患者使用嘌呤类药物效应的关联性提供依据。方法 应用实时荧光TaqMan-MGB探针等位基因分型技术,对湖北汉族194例肾移植患者和200例健康人群的Rac1基因7个单核苷酸多态性位点的基因型进行分析,并对2种人群间的基因型与等位基因进行比较。结果 Rac1基因上所选的7个单核苷酸多态性位点均符合Hardy-Weinberg平衡,其中rs702482与rs836488,rs10951982与rs9374位点间存在高度连锁不平衡;筛选出5个标签单核苷酸多态性:rs836488、rs9374、rs6954996、rs12977、rs702483。结论 Rac1基因7个单核苷酸多态性位点的基因型及等位基因的分布,在肾移植患者和健康人群间无显著性差异。性别对基因型及等位基因的分布影响在统计学上无差异。
Abstract
OBJECTIVE To provide the genetic background of the co-relation between Rac1 gene polymorphisms and the effects of thiopurine in renal transplant patients, the distributions of 7 single nucleotide polymorphisms (SNPs) of Rac1 gene in Hubei Hans renal transplant patients were investigated. METHODS The 7 SNPs of Rac1 gene in 194 renal transplant patients and 200 healthy subjects were genotyped by real time TaqMan-MGB genotyping assay. The genotype and allele distributions in these two populations were compared. RESULTS The genotype distributions of these seven loci were in accordance with Hardy-Weinberg equilibrium. Highly linkage disequilibrium were observed between rs702482 and rs836488, rs10951982 and rs9374, respectively. And rs836488, rs9374, rs6954996, rs12977, and rs702483 were selected as Tag SNPs. CONCLUSION There are no significant differences in the genotypic and allelic distributions of SNPs between the renal transplant patients and the healthy population. No significant differences in the distribution of Rac1 gene polymorphism are noted by gender.
关键词
Rac1 /
基因多态性 /
单核苷酸多态性 /
肾移植
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Key words
Rac1 /
gene polymorphism /
single nucleotide polymorphism /
renal transp
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中图分类号:
R969
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参考文献
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基金
国家自然科学基金资助项目(81273591);湖北省自然科学基金资助项目(2009CDB380);中央高校基本科研业务费专项资金资助(2011JC039)
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