O'Brien Stacie, Lea Rodney A, Jadhao Sudhir, Lee Simon, Sukhadia Shrey, Arunachalam Vignesh, Roulis Eileen, Flower Robert L, Griffiths Lyn, Nagaraj Shivashankar H
Centre for Genomics and Personalized Health, Queensland University of Technology, Brisbane, QLD 4059, Australia.
Clinical Services and Research, Australian Red Cross Lifeblood, Brisbane, QLD 4059, Australia.
Genes (Basel). 2023 Aug 30;14(9):1740. doi: 10.3390/genes14091740.
Improvements in blood group genotyping methods have allowed large scale population-based blood group genetics studies, facilitating the discovery of rare blood group antigens. Norfolk Island, an external and isolated territory of Australia, is one example of an underrepresented segment of the broader Australian population. Our study utilized whole genome sequencing data to characterize 43 blood group systems in 108 Norfolk Island residents. Blood group genotypes and phenotypes across the 43 systems were predicted using RBCeq. Predicted frequencies were compared to data available from the 1000G project. Additional copy number variation analysis was performed, investigating deletions outside of RHCE, RHD, and MNS systems. Examination of the ABO blood group system predicted a higher distribution of group A1 (45.37%) compared to group O (35.19%) in residents of the Norfolk Island group, similar to the distribution within European populations (42.94% and 38.97%, respectively). Examination of the Kidd blood group system demonstrated an increased prevalence of variants encoding the weakened Kidd phenotype at a combined prevalence of 12.04%, which is higher than that of the European population (5.96%) but lower than other populations in 1000G. Copy number variation analysis showed deletions within the Chido/Rodgers and ABO blood group systems. This study is the first step towards understanding blood group genotype and antigen distribution on Norfolk Island.
血型基因分型方法的改进使得大规模基于人群的血型遗传学研究成为可能，有助于发现罕见血型抗原。诺福克岛是澳大利亚的一个外部孤立领地，是澳大利亚广大人口中代表性不足的一部分的一个例子。我们的研究利用全基因组测序数据对108名诺福克岛居民的43个血型系统进行了特征分析。使用RBCeq预测了43个系统的血型基因型和表型。将预测频率与1000G项目的可用数据进行了比较。进行了额外的拷贝数变异分析，研究了RHCE、RHD和MNS系统之外的缺失情况。对ABO血型系统的检测预测，诺福克岛居民中A1型（45.37%）的分布高于O型（35.19%），这与欧洲人群中的分布情况相似（分别为42.94%和38.97%）。对基德血型系统的检测表明，编码弱化基德表型的变体的患病率有所增加，合并患病率为12.04%，高于欧洲人群（5.96%），但低于1000G中的其他人群。拷贝数变异分析显示奇多/罗杰斯血型系统和ABO血型系统内存在缺失。这项研究是了解诺福克岛血型基因型和抗原分布的第一步。
