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为探讨系统性红斑狼疮(SLE)幼年发病与成人期发病在遗传基础方面是否存在差异 ,选择与SLE成人期发病有关的1q22～24区域的2个微卫星标记D1s2628和D1s2673及16q12区域的1个微卫星标记D16S517,在80例幼年SLE患儿及其核心家系中应用荧光标记PCR微卫星分型技术对其进行基因分型 ,经传递不平衡分析(transmissiondisquilibriumtest,TDT)软件统计处理。结果D1s2628和D1s2673各有一等位基因D1s2628-118bp和D1s2673-102bp 与幼年SLE发病存在连锁不平衡(其传递∶不传递分别为39∶20,P=0.0134;43∶18,P=0.0014)。该结果包括阳性传递的等位基因型与在SLE成人期发病组中所获结论完全一致 ,而与SLE成人期发病有关的D16S517未显示有等位基因与幼年SLE发病有相关性。提示幼年与成人SLE在发病机制上存在遗传基础异同 ,若将两者进行对比研究将有助于SLE主要易感基因的发现
To investigate whether there is a genetic basis in the pathogenesis of SLE in infancy and adulthood, two microsatellite markers D1s2628 and D1s2673 and 16q12 in 1q22 ~ 24 region associated with adult onset of SLE were selected The microsatellite marker D16S517 was used to genotype the 80 pediatric SLE children and their nuclear pedigrees by fluorescent microsatellite DNA microscopy and was statistically analyzed by transmissiondisquilibriumtest (TDT) software. Results There was a linkage disequilibrium between D1s2628-118bp and D1s2673-102bp alleles in D1s2628 and D1s2673 with the onset of childhood SLE (transmission: 39:20, P = 0.0134; 43:18, P = 0.0014, respectively). The results, including the positive transmission allele, were exactly the same as those obtained in the adult-onset SLE group, whereas D16S517, which is associated with the onset of adult SLE, did not show allele association with childhood SLE. Suggesting that there is a genetic basis of similarities and differences in the pathogenesis of childhood and adult SLE, if the two were compared to study will be conducive to the discovery of SLE major susceptibility genes