Genetic Characterization of Blood Group Antigens for Polynesian Heritage Norfolk Island Residents.

ABSTRACT: 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 distribut

SUBMITTER: O'Brien S 

PROVIDER: S-EPMC10530796 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature