系统性红斑狼疮的传递/不平衡分析

Transmission / Disequilibrium Test on Systemic Lupus Erythematosus

目的 应用传递 /不平衡方法 ,分析HLA -D区系统性红斑狼疮 (SLE)等位基因的家系相关性。方法 对 42个SLE家系提取DNA ,PCR并进行杂交 ,根据DQA1、DQB1、DRB1位点的关联分析结果 ,对这 3个位点关联显著的等位基因进行传递 /不平衡分析。结果 DQA1 0 10 2在家系中经TDT传递不平衡检验 ,χ2 =5 .80 ,Pc<0 .0 5 ;DQA1 0 5 0 1,χ2 =3.2 4,P >0 .0 5 ;DQB1、DRB1位点等位基因经TDT与sTDT的联合检验 ,未发现显著相关性 ,z值均小于 1.96 ,P >0 .0 5。结论 传递 /不平衡检验结果发现 ,DQA1 0 10 2等位基因与SLE相关 ,提示该等位基因可能是中国南方汉族人群中与SLE有关的一个易感等位基因。

Purpose. To perform family-based associatied analysis of alleles of HLA-D region on Systemic lupus erythematosus (SLE) by transmission/disequilibrium test. Methods. DNA from 42 pedigrees were extracted, followed by polymerase chain reaction (PCR) and hybridization. Transmission/disequilibrium test of 3 loci with significant association was done according to the results of association analysis for the loci DQA1, DQB1 and DRB1. Results. With the aid of TDT/sTDT, it was suggested that there was a significance in locus DQA1 * 0102 (χ2 = 5.80, Pc 2 = 3.24, P>0.05). No significant association was found for alleles of DQB1 and DRB1 loci by combined TDT and sTDT, z value less than 1.96 and P>0.05. Conclusion. The result of transmission/disequilibrium test in this study found that the DQA1 * 0102 allele was associated with SLE, which suggested that this allele might be a susceptible gene involved in onset of SLE among the Han nationality population in South China.