Allelic diversity of KIR3DL1/3DS1 in a southern Chinese population
Allelic diversity of KIR3DL1/3DS1 in a southern Chinese population
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中国南方人群 KIR3DL1/3DS1 等位基因多样性
DOI：
10.1016/j.humimm.2015.09.017
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发表时间：
2015-09-01
期刊：
影响因子：
2.7
通讯作者：
Lu, Liang
中科院分区：
文献类型：
--
作者：
Deng, Zhihui;Zhen, Jianxin;Lu, Liang
抑制的KIR3DL1和激活的KIR3DS1分离为同一基因座的等位基因。KIR3DL1在等位基因水平上具有高度的多样性，KIR3DL1等位基因表现出不同的表达水平和配体结合亲和力，导致不同程度的NK细胞抑制。以往的研究表明，KIR3DL1/3DS1基因多态性与病毒感染、癌症和移植有关。然而，关于KIR3DL1/3DS1等位基因在中国人群中的分布情况却知之甚少。本研究采用聚合酶链式反应-单链构象多态性分析和测序分型方法检测了中国南方人群(N=306)KIR3DL1/3DS1的等位基因多样性。KIR3DL1和KIR3DS1分别在97.1%和34.0%的受试者中检出。共鉴定出10个KIR3DL1等位基因(包括2个新等位基因)和6个KIR3DS1等位基因(包括5个新等位基因)。常见的KIR3DL1等位基因有KIR3DL1*01502(74.8%)、KIR3DL1*00501(23.9%)和KIR3DL1*00701(15.7%)。KIR3DS1*01301是主要的KIR3DS1等位基因，其他KIR3DS1等位基因仅偶见。了解KIR3DL1/3DS1的等位基因多态性有助于更好地了解KIR3DL1/3DS1在中国南方人群相关疾病和临床移植中的作用。(C)2015年美国组织相容性和免疫遗传学学会。爱思唯尔公司出版，版权所有。
The inhibitory KIR3DL1 and the activating KIR3DS1 segregate as alleles of the same locus. KIR3DL1 is highly diversified at the allele level and KIR3DL1 alleles exhibit varied levels of expression and ligand binding affinity resulting in varied degrees of NK cell inhibition. Previous studies have shown that the KIR3DL1/3DS1 polymorphism associated with viral infection, cancer and transplantation. However, little is known about the population distribution of KIR3DL1/3DS1 alleles in Chinese. The present study examined allelic diversity of KIR3DL1/3DS1 in a southern Chinese population (N = 306) using PCR-SSP and sequencing based typing. The presence of KIR3DL1 and KIR3DS1 were detected in 97.1% and 34.0% of the tested individuals respectively. A total of 10 KIR3DL1 alleles (including 2 novel ones) and 6 KIR3DS1 alleles (including 5 novel ones) were identified. Common KIR3DL1 alleles (>10%) were KIR3DL1*01502 (74.8%), KIR3DL1*00501 (23.9%) and KIR3DL1*00701 (15.7%). KIR3DS1*01301 was the predominant KIR3DS1 allele with other KIR3DS1 alleles only sporadically observed. The knowledge of the allelic polymorphism of KIR3DL1/3DS1 may help to better understand the role played by KIR3DL1/3DS1 in associated diseases and clinical transplantation in southern Chinese. (C) 2015 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.