儿童噬血细胞性淋巴组织细胞增生症XIAP基因突变筛查

XIAP gene mutation screening in children with hemophagocytic lymphohistiocytosis

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。

Abstract:

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 of XIAP 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.