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土耳其安纳托利亚中部地区的 HLA 等位基因、基因型和单倍型分析。

HLA Alleles, Genotype and Haplotype Analyzes from Central Anatolia Region of Turkey.

机构信息

Department of Immunology, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir, Turkey

Department of Internal Medicine, Division of Hematology, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir, Turkey

出版信息

Balkan Med J. 2023 Sep 11;40(5):358-366. doi: 10.4274/balkanmedj.galenos.2023.2023-4-55. Epub 2023 Aug 16.

Abstract

BACKGROUND

Although human leukocyte antigen (HLA) data for the Turkish population has been reported, there are no statistics on the HLA-DPB1 locus, which has recently received significant attention, particularly in hematopoietic stem cell transplantation. In addition, there is no study that has reported the 2-6 loci HLA haplotype distribution, 8-digit HLA allele frequency, and genotype frequency in the Turkish population.

AIMS

To evaluate the low and high resolution (2-4-8 digits) HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 allele data using the data of 6100 healthy individuals from the Central Anatolian region of Turkey.

STUDY DESIGN

Retrospective cross-sectional study.

METHODS

All tests were performed using molecular HLA techniques: low-resolution DNA-based sequence-specific oligonucleotides, low/high-resolution DNA-based sequence-specific primer, and high-resolution next generation sequencing. A total of 6100 healthy donors with a minimum of 3 loci (HLA-A, -B, -DRB1) were analyzed for their HLA-A, -B, -C, -DRB1, -DQB1, and -DPB1 data. Pypop and HLA-net GENE[RATE] were used to analyze the data.

RESULTS

Among the HLA class I alleles, the following were the most frequently observed alleles: for HLA-A, , and ; for HLA-B, , and ; and for HLA-C, , and . Among the HLA class II alleles, the following alelles were the most frequently observed: for HLA-DRB1, , and ; for HLA-DQB1, , and ; and for HLA- DPB1, , and . The most common alleles among HLA-DPB1 in the 4-digit evaluation were DPB104:01, DPB102:01, and DPB1*04:02. Among the HLA classes I and II, the following were the most frequently observed 8-digit alleles in HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 were , and , respectively. The most common 6 loci haplotype was (2.71%).

CONCLUSION

In this study, low and high resolution HLA-DPB1 allele frequency, 6 locus haplotype frequency and genotype frequency were reported for the first time in Turkish population. These new data can be used to map HLA in our country and may provide ideas for potential future studies.

摘要

背景

尽管已经有报道称人类白细胞抗原(HLA)数据适用于土耳其人群,但对于 HLA-DPB1 基因座,目前尚无统计数据,而该基因座最近受到了广泛关注,尤其是在造血干细胞移植领域。此外,目前尚无研究报告过土耳其人群 HLA-DPB1 基因座的 2-6 个基因座 HLA 单体型分布、8 位数字 HLA 等位基因频率和基因型频率。

目的

利用来自土耳其中安纳托利亚地区的 6100 名健康个体的数据,评估低分辨率和高分辨率(2-4-8 位数字)HLA-A、-B、-C、-DRB1、-DQB1 和-DPB1 等位基因频率。

研究设计

回顾性横断面研究。

方法

所有检测均采用分子 HLA 技术进行:低分辨率基于 DNA 的序列特异性寡核苷酸、低/高分辨率基于 DNA 的序列特异性引物和高分辨率下一代测序。对 6100 名至少有 3 个基因座(HLA-A、-B、-DRB1)的健康供者进行 HLA-A、-B、-C、-DRB1、-DQB1 和-DPB1 数据分析。使用 Pypop 和 HLA-net GENE[RATE]分析数据。

结果

在 HLA Ⅰ类等位基因中,最常见的等位基因为:HLA-A01:01、02:01 和31:01;HLA-B13:01、35:01 和51:01;和 HLA-C07:02、15:02 和18:01。在 HLA Ⅱ类等位基因中,最常见的等位基因为:HLA-DRB115:01、04:05 和13:02;HLA-DQB106:02、03:02 和02:02;和 HLA-DPB104:01、02:01 和04:02。在 4 位数字评估中,HLA-DPB1 最常见的等位基因为 DPB104:01、DPB102:01 和 DPB1*04:02。在 HLA Ⅰ类和Ⅱ类中,HLA-A、-B、-C、-DRB1、-DQB1 和-DPB1 中最常见的 8 位数字等位基因为、和,分别。最常见的 6 个基因座单体型为(2.71%)。

结论

本研究首次报道了土耳其人群 HLA-DPB1 等位基因频率、6 个基因座单体型频率和基因型频率的低分辨率和高分辨率数据。这些新数据可用于我们国家的 HLA 图谱绘制,并可能为未来的潜在研究提供思路。

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