Wang Miao, He Jun, Bao Xiao-jing, Qiu Qiao-cheng, Li Yang, Xu Chao, Yuan Xiao-ni, Li Ling-jie
The First Affiliated Hospial of Soochow University, Jiangsu Institute of Hematology, Suzhou 215006, China.
Zhonghua Xue Ye Xue Za Zhi. 2013 Dec;34(12):1038-43. doi: 10.3760/cma.j.issn.0253-2727.2013.12.009.
To find out the distributed characteristics of KIR2DL1 alleles frequencies and the recognition HLA-C ligand in the Chinese Han population.
The 111 patients and 116 donors from CMDP were performed the KIR2DL1 high-resolution typing and KIR genotyping using sequence-based testing (SBT) and PCR-SSP methods.
A total of 224 individuals with KIR2DL1 locus was predominantly observed and accounted for 98.68% (224/227). There were 3 different KIR2DL1 alleles, including KIR2DL100302, 00201 and 00401 alleles polymorphism. The most common phenotype observed were KIR2DL100302 (84.82%, 380/448), KIR2DL100201 (12.05%, 54/448) and KIR2DL100401(3.13%,14/448), present at allele genotype frequencies of 61.04%,6.22% and 1.58% respectively. The allele homozygotic types of KIR2DL100302 and KIR2DL100302 were the most frequent in 6 KIR2DL1 allele by high resolution typing. The allele heterozygous types of KIR2DL100302 and KIR2DL100401 presented statistically different in haplotypes A/A and B/x (P=0.001), and KIR2DL100401 lacked of all A/A haplotype. The KIR2DL100302 and KIR2DL100201 allele had significant positive associations between different KIR pairs of KIR2DS1, KIR2DL3, KIR2DS4 and KIR3DL1/S1 using linkage disequilibrium analysis (P<0.01), respectively. In the receptor-ligand of KIR/HLA model after allo-HSCT, KIR2DL100302 alleles correlated with their HLA-C2 group ligands. KIR2DL100302 and HLA-C06:02 was the most common combination ligand model, but KIR2DL100302 and HLA-C01:02 was the most frequent mismatch ligand model with the development of NK cell-induced alloreactivity, meanwhile there was statistically significant difference of frequency distribution (P<0.05).
The KIR2DL1*00302 was the most frequent allele in Chinese Han population. The KIR2DL1 high resolution typing would be beneficial for predicting donor NK cells all activity after hematopoietic stem cell transplantation and selecting suitable donors.
了解中国汉族人群中KIR2DL1等位基因频率的分布特征及其对HLA - C配体的识别情况。
采用基于序列的检测(SBT)和聚合酶链反应 - 序列特异性引物(PCR - SSP)方法,对111例患者和116例中国骨髓供者登记库(CMDP)的供者进行KIR2DL1高分辨率分型及KIR基因分型。
共检测到224例具有KIR2DL1基因座的个体,占98.68%(224/227)。存在3种不同的KIR2DL1等位基因,包括KIR2DL100302、00201和00401等位基因多态性。观察到的最常见表型为KIR2DL100302(84.82%,380/448)、KIR2DL100201(12.05%,54/448)和KIR2DL100401(3.13%,14/448),其等位基因基因型频率分别为61.04%、6.22%和1.58%。通过高分辨率分型,KIR2DL100302和KIR2DL100302的等位基因纯合型在6种KIR2DL1等位基因中最为常见。KIR2DL100302和KIR2DL100401的等位基因杂合型在单倍型A/A和B/x中存在统计学差异(P = 0.001),且KIR2DL100401缺乏所有A/A单倍型。使用连锁不平衡分析,KIR2DL100302和KIR2DL100201等位基因分别与KIR2DS1、KIR2DL3、KIR2DS4和KIR3DL1/S1的不同KIR对之间存在显著正相关(P<0.01)。在异基因造血干细胞移植后的KIR/HLA模型的受体 - 配体中,KIR2DL100302等位基因与其HLA - C2组配体相关。KIR2DL100302和HLA - C06:02是最常见的组合配体模型,但KIR2DL100302和HLA - C01:02是随着NK细胞诱导的同种异体反应发展最常见的错配配体模型,同时频率分布存在统计学差异(P<0.05)。
KIR2DL1*00302是中国汉族人群中最常见的等位基因。KIR2DL1高分辨率分型有助于预测造血干细胞移植后供体NK细胞的全部活性并选择合适的供体。