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Updated: Jun 25, 2026
Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
Published on: February 24, 2014
[XIAP gene mutation screening in children with hemophagocytic lymphohistiocytosis]
Dan-Yan Ou1, Jian-Ming Luo, Yuan Yuan
1Department of Pediatrics, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China. jmluo@aliyun.com.
Insights
Mutations in the X-linked inhibitor of apoptosis (XIAP) gene are rare causes of hemophagocytic lymphohistiocytosis (HLH) in children. A specific single nucleotide polymorphism (SNP) in the XIAP gene showed no significant association with childhood HLH.
Area of Science:
- Genetics
- Immunology
- Pediatrics
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.
