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目的 探讨脱氧核糖核酸酶 1(DNASE1)基因单核苷酸多态性 (SNP)与中国人系统性红斑狼疮 (SLE)相关性。方法 验证文献报道的DNASE1基因 3′端 4个SNP ,选取杂合度较高者对 312个中国人群SLE家系以TaqManMGB等位基因识别技术在ABI790 0HT序列测定仪上进行SNP基因分型 ,数据以SDS 2 0软件收集 ,Genehunter进行统计处理并构建SNP单倍型。结果 中国人群中 ,DNASE1SNP3398、3737杂合度均接近 0 5 ,4 184亦有一定的杂合度。 3398与 3737的C G单倍型优先传递给患病子代 ,3398、3737、4 184的单倍型C G G优先传递给患病子代 (P <0 0 5 )。结论 在SLE患者中存在特定的SNP单倍型 ,部分SLE患者的发病与DNASE1基因相关联。
Objective To investigate the association between DNA SNP 1 SNP and Chinese systemic lupus erythematosus (SLE). Methods Four SNPs at the 3 ’end of DNASE1 gene were identified in the literature, and 312 Chinese SLE families were selected for SNP genotyping by TaqManMGB allele. The data were analyzed by SDS Software was collected, Genehunter was subjected to statistical processing and SNP haplotypes were constructed. Results Among the Chinese population, the heterozygosities of DNASE1SNP3398 and 3737 were all close to 0 5, and 4 184 also had some degree of heterozygosity. C haplotypes of 3398 and 3737 were preferentially transmitted to diseased offspring, and haplotypes C G G of 3398, 3737 and 4 184 were preferentially transmitted to affected offspring (P <0.05). Conclusion There is a specific SNP haplotype in SLE patients, and some SLE patients are associated with DNASE1 gene.