摘要
目的探讨程序性细胞死亡基因（PDCDI）SNP-7809（rs11568821）、SNP-7872，SNP-8162（rs6705653）单核苷酸多态性（SNP）在中国福建汉族人群中与系统性红斑狼疮（SLE）的遗传相关性，并尝试DNA池技术（DNA-pooling）在遗传相关分析方面研究的实用性。方法采用病例-对照研究分析方法，募集240例SLE患者和210名正常对照者作为研究对象，应用限制性片段长度多态性-聚合酶链反应（RFLP-PCR）方法和引物引入限制性内切酶分析（PIRA-PCR）方法对PDCD1基因SNP-7809、SNP-7872和SNP-8162进行分型测定。通过标准曲线法定量测定患者和正常对照DNA池混合样本等位基因的比值比（OR），对比验证能否通过DNA池技术快速判定SNP的遗传相关性。结果PDCD1 SNP-7872和SNP-8162基因型频率在SLE组和对照组基因型分布差异无统计学意义（P=0．81，0．86；OR=1．02，0．99），经Logistic回归分析，控制性别、年龄的混杂作用后，PDCD1 SNP-7872和SNP-8162基因型频率在SLE组和对照组基因型分布差异仍无统计学意义（P=0.75，0．81），单一样本测定结果与混合样本的测定结果基本一致。结论在中国福建汉族人群中，PDCD1基因的SNP-7809无多态性，SNP-7872和SNP-8162基因多态性与SLE的发病没有相关性。研究表明DNA池技术对于某些SNP的相关性的研究是一种便捷可行的方法。
Objective To investigate the associations of programmed cell death 1 （PDCD1） polymor- phisms,SNP-7809 （rs11568821）,SNP-7872 and SNP-8162 （rs6705653） with systemic lupus erythematosus （SLE） in Chinese Han population from Fujian province; and to test the utility of DNA-pooling technique when applied to association studies. Methods Polymerase chain reaction-restriction fragment length poly- morphism （PCR-RFLP） and primer-introduced restriction analysis PCR （PIRA-PCR） were applied to geno-type SNP-7872 and SNP-8162 in 240 patients of SLE and 210 healthy controls in Fujian population. The allelic ratio of two alleles in the DNA pools was determined with the standard curve method. By comparing the results,the validity of applying DNA-pooling technique to association study of SNPs was determined. Results In Fujian Han population,SNP-7809 was not polymorphic. There were no significant differences in the geno-typic frequencies of PDCD1 SNP-7872 and SNP-8162 between SLE and control groups （P=0.81, 0.86; OR= 1.02, 0.99）. Multiple logistic regression analysis revealed that PDCD1 SNP-7872 and SNP-8162 were not associated with SLE after adjusting for both potential confounding factors of gender and age （P=0.75, 0.81 ）. This study also demonstrated that assaying odd ratios with DNA-pooling technique can produce similar results as that obtained by genotyping individual samples. Conclusion In Fujian Han population, SNP-7809 of PD- CD1 is not polymorphic and SNP-7872 and SNP-8162 are not associated with SLE. The experiments also demonstrate that “genotyping” SNPs with DNA pools can be used as a fast and labor-saving method in the as- sociation studies of a portion of SNPs.
出处
《中华风湿病学杂志》
CAS
CSCD
2008年第3期172-177,共6页
Chinese Journal of Rheumatology
基金
基金项目：福建医科大学教授基金资助项目（JS060012）
福建省卫生厅青年科研基金资助项目（2007-1-9）
关键词
红斑狼疮
系统性
多态性
单核苷酸
多态性
限制性片段长度
细胞凋亡
DNA池
Lupus erythematosus, systemic
Polymorphisms, single nucleotide
Polymorphism, re-striction fragment length
Apoptosis
DNA pooling
