D1s2628、D1s2673、D16s517与系统性红斑狼疮幼年发病相关性研究

Study on the relationship of D1s2628、D1s2673and D16s517in children with systemic lupus ery-thematosus(SLE)

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 。

To explore whether there is any difference in genetic pathogenesis of SLE between children and adults,two microsatellite markers(D1s2628,D1s2673)on chromosome1q22-24region and one miˉcrosatellite marker D16S517were selected as the monitors based on their close relationship with the pathoˉgenesis of the adulthood SLE.Genotypes were analyzed in80Chinese children with juvenile SLE and their healthy parents with the fluorescent labeling PCR microsatellite_typing techniques.The results tested with TDT showed that each one of the alleles D1s2628and D1s2673(that is:D1s2628-118bp and D1s2673-102bp)had the transimission disequilibriumin in children with juvenile SLE(the rates of transmission and untransˉmission were39∶20,P=0.0134;and43∶18,P=0.0014respectively),indicating the positive transmission alleles.So these results were completely coincided with the conclusion achieved in the adulthood SLE in our laboratory.While the marker of D16s517closely associated with the pathogenesis of adulthood SLE had nothing to do with that of the juvenile SLE,confirming that some similarity and difference were existed in the genetic pathogenesis of SLE between children and adults.