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基于 45457 个人的高分辨率 HLA 等位基因和单倍型频率以及相应的干细胞供者匹配概率，对沙特阿拉伯人群进行分析。

High-resolution HLA allele and haplotype frequencies of the Saudi Arabian population based on 45,457 individuals and corresponding stem cell donor matching probabilities.

机构信息

King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

DKMS, Tübingen, Germany.

出版信息

Hum Immunol. 2021 Feb;82(2):97-102. doi: 10.1016/j.humimm.2020.12.006. Epub 2020 Dec 30.

DOI:10.1016/j.humimm.2020.12.006
PMID:33388178
Abstract

We estimated HLA allele and haplotype frequencies of the Saudi Arabian population from a sample of 45,457 registered stem cell donors. The most frequent HLA alleles were A02:01g (18.5%), C06:02g (16.1%), B51:01g (14.1%), DRB107:01g (16.2%), DQB102:01g (30.5%), and DPB104:01g (33.6%). The most frequent 5-locus haplotypes were A02:05g~C06:02gB*50:01gDRB107:01g~DQB102:01g (1.73%), A02:01g~C06:02gB*50:01gDRB107:01g~DQB102:01g (1.66%), and A26:01g~C07:02gB*08:01gDRB103:01g~DQB102:01g (1.38%). Furthermore, we used the calculated haplotype frequencies to estimate stem cell donor matching probabilities for Saudi Arabian donor and patient populations under various matching requirements. These results are relevant for strategic donor registry planning in the Kingdom of Saudi Arabia.

摘要

我们从 45457 名已注册的干细胞供者中抽取样本，估计了沙特阿拉伯人群的 HLA 等位基因和单倍型频率。最常见的 HLA 等位基因是 A02:01g（18.5%）、C06:02g（16.1%）、B51:01g（14.1%）、DRB107:01g（16.2%）、DQB102:01g（30.5%）和 DPB104:01g（33.6%）。最常见的 5 个基因座单倍型是 A02:05g~C06:02gB*50:01gDRB107:01g~DQB102:01g（1.73%）、A02:01g~C06:02gB*50:01gDRB107:01g~DQB102:01g（1.66%）和 A26:01g~C07:02gB*08:01gDRB103:01g~DQB102:01g（1.38%）。此外，我们使用计算出的单倍型频率，根据各种匹配要求，估算了沙特阿拉伯供者和患者人群的干细胞供者匹配概率。这些结果与沙特阿拉伯王国的战略供者登记规划有关。

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