Differences in the distribution of RBC antigens defining the blood group types among different populations have been well established. Fewer studies exist that have explored the blood group profiles of indigenous populations worldwide. With the availability of population-scale genomic datasets, we have explored the blood group profiles of theOrang Aslis, who are the indigenous population in Peninsular Malaysia and provide a systematic comparison of the same with major global population datasets. Variant call files fromwhole genome sequence data (hg19) of 114 Orang Asli were retrieved from The Orang Asli Genome Project. Systematic variant annotations were performed using ANNOVAR and only those variants mapping back to genes associated with 43 blood group systems and transcription factors KLF1 and GATA1 were filtered. Blood group-associated allele and phenotype frequencies were determined and were duly compared with other datasets including Singapore SequencingMalay Project, aboriginal western desert Australians and global population datasets including The 1000 Genomes Project and gnomAD. This study reports four alleles (rs12075, rs7683365, rs586178 and rs2298720) of DUFFY, MNS, RH and KIDD blood group systems which were significantly distinct between indigenous Orang Asli and cosmopolitanMalaysians. Eighteen alleles that belong to 14 blood group systems were found statistically distinct in comparison to global population datasets. Although not much significant differences were observed in phenotypes of most blood group systems, major insights were observed when comparing Orang Asli with aboriginal Australians and cosmopolitanMalaysians.This study serves as the first of its kind to utilize genomic data to interpret blood group antigen profiles of the OrangAsli population. In addition, a systematic comparison of blood group profiles with related populations was also analysed and documented.

中文翻译：

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使用全基因组测序数据对血型等位基因进行计算机基因分型：马来西亚半岛原住民的比较研究。

定义不同人群血型的红细胞抗原分布差异已得到充分证实。探索世界各地土著居民血型特征的研究较少。随着人口规模基因组数据集的出现，我们探索了马来西亚半岛原住民原住民的血型谱，并与全球主要人口数据集进行了系统比较。从原住民基因组计划中检索了 114 个原住民全基因组序列数据 (hg19) 的变异调用文件。使用 ANNOVAR 进行系统变异注释，并且仅过滤那些映射回与 43 个血型系统和转录因子 KLF1 和 GATA1 相关的基因的变异。确定了与血型相关的等位基因和表型频率，并与其他数据集（包括新加坡测序马来项目、澳大利亚西部沙漠原住民）以及全球人口数据集（包括千人基因组计划和 gnomAD）进行了适当比较。这项研究报告了 DUFFY、MNS、RH 和 KIDD 血型系统的四个等位基因（rs12075、rs7683365、rs586178 和 rs2298720），这些等位基因在土著原住民和国际化马来西亚人之间显着不同。与全球人口数据集相比，发现属于 14 个血型系统的 18 个等位基因具有统计学差异。虽然大多数血型系统的表型没有观察到太大的显着差异，但在将原住民与澳大利亚原住民和大都会马来西亚人进行比较时，观察到了重要的见解。这项研究是第一个利用基因组数据来解释原住民血型抗原谱的研究。原住民人口。此外，还分析并记录了相关人群血型谱的系统比较。