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中国陕西汉族人群中杀伤细胞免疫球蛋白样受体基因及其配体的多样性分布。

Diversity distributions of killer cell immunoglobulin-like receptor genes and their ligands in the Chinese Shaanxi Han population.

机构信息

Key Laboratory of Environment and Gene Related to Diseases (Xi'an Jiaotong University), Ministry of Education, Xi'an, Shaanxi, China.

出版信息

Hum Immunol. 2011 Sep;72(9):733-40. doi: 10.1016/j.humimm.2011.04.003. Epub 2011 Jun 12.

Abstract

In the present study, 17 killer cell immunoglobulin-like receptors (KIR) genes and KIR ligands (human leukocyte antigen [HLA] -A and -B) were detected by using a polymerase chain reaction-sequence-specific primer (PCR-SSP) method in 104 unrelated healthy Han individuals living in Shaanxi province, China. The observed carrier frequencies of the 12 KIR genes ranged from 0.14 to 0.96. KIR2DL4, 3DL2, 3DL3, 2DP1 and 3DP1 were found to be present in every individual. A total of 51 different KIR gene profiles were identified, in which 11 gene profiles exclusively belonged to the study population. Neighbor-joining phylogenetic tree between the studing population and its neighboring ethnic groups was constructed using the observed carrier frequencies of 13 KIR loci. The phylogenetic tree shows that the Shaanxi Han population, Han populations in different regions, Yi, Japanese, and Koreans were in the same cluster. KIR/HLA relationships show that KIR3DS1(-)/3DL1(+)/Bw4(+) was the most common association in the population. In conclusion, the present study findings reveal the high polymorphism of KIRs in the Shaanxi Han population, demonstrate the KIR/HLA association in the study population, and enrich the KIR and HLA gene resources. The obtained KIR data will further the understanding of genetic relationships among populations in different geographic areas, and assist in answering questions regarding KIR/HLA relationships.

摘要

在本研究中,采用聚合酶链反应-序列特异性引物(PCR-SSP)方法检测了 104 名无亲缘关系的居住在中国陕西省的汉族健康个体中的 17 个杀伤细胞免疫球蛋白样受体(KIR)基因和 KIR 配体(人白细胞抗原 [HLA]-A 和 -B)。观察到的 12 个 KIR 基因的携带频率范围为 0.14 至 0.96。发现 KIR2DL4、3DL2、3DL3、2DP1 和 3DP1 存在于每个个体中。共鉴定出 51 种不同的 KIR 基因谱,其中 11 种基因谱仅属于研究人群。使用 13 个 KIR 位点的观察到的携带频率构建了研究人群与其邻近族群之间的邻接聚类系统发生树。系统发生树表明,陕西汉族人群、不同地区的汉族人群、彝族、日本人和韩国人在同一聚类中。KIR/HLA 关系表明,该人群中最常见的关联是 KIR3DS1(-)/3DL1(+)/Bw4(+)。总之,本研究结果揭示了陕西汉族人群中 KIR 的高度多态性,表明了研究人群中 KIR/HLA 的关联,并丰富了 KIR 和 HLA 基因资源。获得的 KIR 数据将进一步了解不同地理区域人群之间的遗传关系,并有助于回答关于 KIR/HLA 关系的问题。

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