中文摘要：

目的了解X连锁凋亡抑制因子（XIAP）基因突变和序列变异在儿童噬血细胞性淋巴组织细胞增生症（HLH）中的发生情况。方法应用聚合酶链反应（PCR）结合直接测序方法，对2009年1月至2012年12月诊断为HLH的65例患儿（病例组）及70例健康儿童（对照组）XIAP基因外显子（1-1、1．2、2-6）编码区进行序列分析。结果在HLH患儿XIAP基因外显子编码区未发现突变；仅在XIAP外显子5发现1个非同义单核苷酸多态性（SNP）位点rs5956583，但此SNP位点的基因型和等位基因频率在病例组和对照组之间的分布差异均无统计学意义（均P〉0．05）。结论由XIAP基因突变导致的儿童HLH可能比较罕见；XIAP基因SNP位点rs5956583可能与儿童HLH发病关系不大。

英文摘要：

Objective To investigate the prevalence of mutations and sequence variations in X-linked inhibitor of apoptosis （XIAP） gene among Chinese pediatric patients with hemophagocytic lymphohistiocytosis （HLH）. Methods Sixty-five children who were diagnosed with HLH between January 2009 and December 2012 （case group）, as well as 70 healthy children （control group）, were enrolled in the study. The exons of XIAP gene （1-1, 1-2, 2-6） were amplified by PCR and directly sequenced. The genotypic and allelic frequencies of single nucleotide polymorphism （SNP） were analyzed. Results None of the HLH patients showed mutations in these exons ofXIAP gene. Only one nonsynonymous SNP, rs5956583 located in exon 5, was observed, but there were no significant differences in the genotypic and allelic frequencies of this SNP between the case and control groups （P〉0.05）. Conclusions HLH caused by XIAP mutations may be rare in children. SNP rs5956583 of XIAP gene may have little contribution to the development of childhood HLH.