中文摘要：

目的探讨KIR2DS4基因及其变异体KIR1D在同胞全相合造血干细胞移植后巨细胞病毒（CMV）感染中的作用。方法选择2005年10月至2014年4月行同胞全相合造血干细胞移植的供、受者267对，检测移植前供、受者的KIR基因型，移植后每周监测受者外周血中的CMVPP65。在供者为AA单体型的受者中分析KIR2DS4及其变异体KIR1D与CMV感染的相关性。结果AA单体型供受者中KIR2DS4及变异体KIR1D的频率分布无明显差异。AA单体型供受者中2DS4和KIR1D的分布比例为2：1，KIR2DS4基因及变异体KIR1D对造血植入无影响。在165例供者为AA单体型的受者中，2DS4^＋1D^-组CMV抗原血症发生率高于2D84^＋1D^＋组（44．0％和19．0％，P=0．002），2DS4^-1D^＋组CMV抗原血症发生率高于2DS4^＋1D^＋组（50％和19．0％，P=0．028），2DS4^＋1D^-组与2DS4^-D^＋组间CMV抗原血症的发生率无显著差异（P〉0．05）。3组治疗后CMV抗原血症转阴的中位时间的差异均无统计学意义（P〉0．05）。结论KIR2DS4基因及其变异体KIR1D与同胞全相合造血干细胞移植后CMV感染的发生存在相关性。

英文摘要：

Objective To expolore the association of the killer cell immunoglobulin-like receptor 2DS4 gene（KIR2DS4） and its variant the killer cell immunoglobulin-like receptor gene 1D（KIR1D） with cytomegalovirus （CMV） infection after HLA-matched sibling hematopoietic stem cell transplantation. Method Polymerase chain reaction with sequence-speci？ c primers （PCR-SSP） method was used to genotype KIR genes in 267 donor-recipient pairs from Oct. 2005 to Apr. 2014. Posttransplant monitoring for CMV infection was performed by immunohistochemical assays. 165 donor-recipient pairs with KIR gene haplotype AA were analyzed for the presence of KIR2DS4 and its variant KIRID. Furthermore, we investigated the influence of the KIR2DS4 variants on CMV infection of 165 recipients receiving sibling related HLA matched transplantation. Result There were no significant differences in frequency of KIR2DS4 or KIRID between donors and recipients in the haplotype AA group. The ratio of 2DS4^＋ and KIR1D in haplotype AA group was 2.. 1. There was no significant difference in neutrophil engraftment and platelet recovery among the three groups after hematopoietic stem cell transplantation. The CMV infection rate was significantly higher in 2DS4^＋ 1D group than in 2DS4^＋ 1D^＋ group （44. 0% vs. 19. 0%, P = 0. 002）. In 2DS4 1D^＋ group, the CMV infection rate was higer than that in 2DS4^＋ 1D^＋ group （50. 0% vs. 19%, P = 0. 028）. However, there was no significant difference in CMV infection rate between 2DS4^＋ 1D^- group and 2DS4^- 1D^＋ group （P〉0. 05）. After therapy, no significant differences in the median time negative for CMV pp65 were found among the three groups （P〉0. 05）. Conclusion KIR2DS4 and its variant KIR1D are associated with CMV infection after HLA-matched sibling hematopoietic stem cell transplantation.