The Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, People's Republic of China.
Hum Immunol. 2010 Mar;71(3):289-92. doi: 10.1016/j.humimm.2009.12.004. Epub 2010 Jan 5.
Killer cell immunoglobulinlike receptors (KIRs) are a diverse family of receptors on natural killer cells. The KIR2DS4-deleted variant differs from the normal KIR2DS4 sequence by a 22-bp deletion in exon 5, which causes a frame shift, yielding a truncated KIR2DS4 protein with loss of the transmembrane and cytoplasmic domains of the full-length KIR2DS4 protein. A sequence-based testing and TOPO TA cloning system identifying and distinguishing alleles of the KIR2DS4 gene was established. The method was applied to 150 Chinese Han individuals: 75 patients who received T-depleted hematopoietic stem cells transplantation and their unrelated donors, establishing frequencies of 2DS4 allele and KIR gene within the local population. A majority (139) of the 150 samples (92.7%) were positive for KIR2DS4. The ratio of deleted to nondeleted versions of KIR2DS4 was approximately 1:2. Three KIR2DS4 novel alleles were identified. Forty-four percent individuals carried two group A haplotypes. The 17 KIR gene loci were found in 21.3%-100% in the population. Our findings suggest that the Chinese Han population is distinct in KIR gene frequencies and 2DS4 allele frequencies in comparison with some other populations.
杀伤细胞免疫球蛋白样受体（KIRs）是自然杀伤细胞上的一种多样化受体家族。KIR2DS4 缺失变体与正常 KIR2DS4 序列在 5 号外显子中有 22 个碱基缺失，导致移码，产生一个截断的 KIR2DS4 蛋白，失去全长 KIR2DS4 蛋白的跨膜和胞质结构域。建立了基于序列的检测和 TOPO TA 克隆系统，用于鉴定和区分 KIR2DS4 基因的等位基因。该方法应用于 150 名中国汉族个体：75 名接受 T 细胞耗尽的造血干细胞移植的患者及其无关供体，确定了该群体中 KIR2DS4 等位基因和 KIR 基因的频率。在 150 个样本中，大多数（139 个）（92.7%）为 KIR2DS4 阳性。KIR2DS4 缺失和非缺失版本的比例约为 1:2。鉴定出 3 种 KIR2DS4 新等位基因。44%的个体携带两种 A 组单倍型。该人群中发现了 17 个 KIR 基因座，频率为 21.3%-100%。与其他一些人群相比，我们的研究结果表明，中国汉族人群在 KIR 基因频率和 2DS4 等位基因频率方面存在明显差异。
