Bao Xiaojing, Zhang Tengteng, Wu Xiaojin, Yuan Xiaoni, Li Yang, Chen Luyao, He Jun
Department of HLA Laboratory, Jiangsu Institute of Hematology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, PR China.
Department of Hematology, Jiangsu Institute of Hematology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, PR China.
HLA. 2020 Jan;95(1):15-22. doi: 10.1111/tan.13686. Epub 2019 Oct 6.
With the goal of improving the population-specific criteria to distinguish KIR genotypes and haplotypes in the region, we examined the KIR gene and haplotype data of Eastern Han based on a large population and analyzed the component genes of centromeric (Cen) and telomeric (Tel) KIR haplotype segments, which may differ in the protection they provide in hematopoietic stem cell transplantation. Samples from 598 families and 2845 unrelated individuals of Eastern Han origin were collected between 2010 and 2017. Genotyping of 17 KIR genes was performed by PCR-SSP and SSO methods. The results showed we obtained the KIR gene distribution of the Eastern Han population. The KIR gene frequencies (GF) in the present study are similar to those observed in other studies on Han but different from other populations. We observed a total of 56 different genotypes, including 1 AA and 55 group B genotypes. The high-frequency KIR genotype profiles found in the present population were consistent with other studies on Han populations but different from those conducted on other populations. In the family panel, a total of 28 KIR haplotypes were identified in the segregation study. The majority of Eastern Han carried group A KIR gene motifs. Comparison of the frequencies of Cen and Tel KIR gene motifs shows that they differ from other populations. The study on the distribution of KIR genes in the population may aid in the development of a complementary population-specific criterion to distinguish between KIR haplotypes and offer a research direction for further gene functional studies.
为了改进该地区区分KIR基因型和单倍型的人群特异性标准，我们基于大量人群研究了东汉人群的KIR基因和单倍型数据，并分析了着丝粒（Cen）和端粒（Tel）KIR单倍型片段的组成基因，这些基因在造血干细胞移植中提供的保护作用可能有所不同。2010年至2017年间收集了598个家庭和2845名东汉血统无关个体的样本。采用PCR-SSP和SSO方法对17个KIR基因进行基因分型。结果表明，我们获得了东汉人群的KIR基因分布。本研究中的KIR基因频率（GF）与其他关于汉族的研究中观察到的频率相似，但与其他人群不同。我们共观察到56种不同的基因型，包括1种AA型和55种B组基因型。本研究人群中发现的高频KIR基因型谱与其他关于汉族人群的研究一致，但与其他人群不同。在家族样本中，在分离研究中总共鉴定出28种KIR单倍型。大多数东汉人携带A组KIR基因基序。Cen和Tel KIR基因基序频率的比较表明，它们与其他人群不同。对人群中KIR基因分布的研究可能有助于制定区分KIR单倍型的补充性人群特异性标准，并为进一步的基因功能研究提供研究方向。
