中文摘要：

目的研究不同杀伤细胞免疫球蛋白样受体（KIR）单体型对父母亲缘供者单倍体造血干细胞移植（HSCT）预后的影响。方法采用PCR一序列特异性引物（PCR．SSP）法对156例恶性血液病患者及其父母双方共计468例样本进行了KIR基因分型，并分析了供者624份KIR单体型特征，其中92例患者接受了亲缘单体型HSCT。结果共检出21种KIR单体型，1种为A单体型，其余20种为B单体型，72．92％（455／624）的个体存在A单体型，而最常见的B单体型为B1、B2和B3，比例分别为10．26％（64／624）、5．77％（36／624）和4．48％（28／624）。在AML／MDS患者中KIR基因型不合组移植后总体生存（OS）和无病生存（RFS）率明显好于KIR基因型相合组（OS率为88．2％对42．9％，P=0．015；RFS率为88．2％对35．7％，P=0．007），而对急性淋巴细胞白血病月}霍奇金淋巴瘤患者的移植无明显影响（OS率为76．0％对75．0％，P=0．727；RFS率为68．0％对65．O％，P=-0．866）。在所有移植患者中，当供者KIR基因型为从或AB1／AB2时，移植后OS和RFS率明显低于供者为其他Bx基因型（OS率为53．3％对96．O％，P=0．017；RFS率为53．3％对92．O％，P=-0．019）；供者KIR基因型AA组移植后疾病复发风险高于Bx组（25．0％对5．0％，P=0．009），而AB1／AB2组移植相关死亡率（TRM）高于AA组及其他Bx组（p=-0．012）；当供者存在着丝粒端基序（Cen）-A／B时，移植后OS和RFS率好于供者Cen-A组（OS率为94．7％对68．5％，P=-0．036；RFS率为89．5％对64．4％，P=0．045）。结论在急性髓系白血病／骨髓增生异常综合征患者移植时首选KIR基因型不合的供者，在所有白血病中供者存在Cen—B是移植后生存的有利因素，并尽量排除AA或AB1／AB2型而选择其他Bx基因型供者，将有利于改善亲缘单倍体HSCT移植预后。

英文摘要：

Objective To investigate the role of different immunoglobulin-like receptor （KIR） haplotypes in haplo-identical hematopoietic stem cell transplantation （HSCT）. Method Killer cell KIR genotyping was performed on 468 individuals from 156 unrelated families by PCR-SSP. A total of 624 KIR haplotypes from the parents were used for haplotype analysis. Ninety-two patients received haplo-identical HSCT from one of the parents. Results The family study showed segregation of one A haplotype and at least 20 unique B haplotypes. The frequency of haplotype A was 72.92% （455/624）. The most commonly observed haplotypes in group B were B1, B2, and B3, present at a frequency of 10.26%, 5.77%, and 4.48%, respectively. Compared to KIR gene matched donors （n= 17 ）, grafts from KIR gene mismatched donors （n= 14） had a positive effect on survival after haplo-identical HSCT for AML/MDS patients （OS： 88.2% vs42.9%, P=0.015; RFS： 88.2% vs 35.7%, P=-0.007）. No effect was observed for ALL/NHL patients （OS： 76.0% vs 75.0%, P=-0.727; RFS： 68.0% vs 65.0%, P=-0.866）. A significantly lower survival rate was observed for transplants from AA （n=52） and AB1/AB2 donors （n=15）, compared to other group Bx donors （n=25）（OS： 53.3% vs 96.0%, P=0.017; RFS： 53.3% vs 92.0%, P=0.019）. Meanwhile, the risk of relapse was much higher in AA group （n=52） compared to Bx group （n=40） （25.0% vs 5.0%, P=-0.009）. A higher risk of TRM was observed in AB1/AB2 group （P=-0.012）. In addition, transplant from donors carried Cen-B was associated with an increased survival compared with Cen-A homozygous donors （OS= 94.7% vs 68.5%, P=-0.036; RFS： 89.5% vs 64.4%, P=0.045）. Conclusion Overall, KIR genotyping and haplotype analyses should be useful for selection of the most optimal donors with favorable KIR gene grains. KIR gene mismatch donors should be Preferred for AML/MDS patients. Selecting donors carried Cen-B and avoiding the selection of donors of KIR genotype AA/AB1/AB2 was strongly advisable