High-throughput genotyping assays for identification of glycophorin B deletion variants in population studies

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dc.contributor.authorAmuzu, Dominic S.Y.
dc.contributor.authorRockett, Kirk A.
dc.contributor.authorLeffler, Ellen M .
dc.date.accessioned2023-04-26T14:30:41Z
dc.date.available2023-04-26T14:30:41Z
dc.date.issued2020
dc.description.abstractGlycophorins are the most abundant sialoglycoproteins on the surface of human erythrocyte membranes. Genetic variation in glycophorin region of human chromosome 4 (containing GYPA, GYPB, and GYPE genes) is of interest because the gene products serve as receptors for pathogens of major public health interest, including Plasmodium sp., Babesia sp., Influenza virus, Vibrio cholerae El Tor Hemolysin, and Escherichia coli. A large structural rearrangement and hybrid glycophorin variant, known as Dantu, which was identified in East African populations, has been linked with a 40% reduction in risk for severe malaria. Apart from Dantu, other large structural variants exist, with the most common being deletion of the whole GYPB gene and its surrounding region, resulting in multiple different deletion forms. In West Africa particularly, these deletions are estimated to account for between 5 and 15% of the variation in different populations, mostly attributed to the forms known as DEL1 and DEL2. Due to the lack of specific variant assays, little is known of the distribution of these variants. Here, we report a modification of a previous GYPB DEL1 assay and the development of a novel GYPB DEL2 assay as high-throughput PCR-RFLP assays, as well as the identification of the crossover/breakpoint for GYPB DEL2. Using 393 samples from three study sites in Ghana as well as samples from HapMap and 1000 G projects for validation, we show that our assays are sensitive and reliable for genotyping GYPB DEL1 and DEL2. To the best of our knowledge, this is the first report of such high-throughput genotyping assays by PCR-RFLP for identifying specific GYPB deletion types in populations. These assays will enable better identification of GYPB deletions for large genetic association studies and functional experiments to understand the role of this gene cluster region in susceptibility to malaria and other diseases.en_US
dc.description.sponsorshipACE: Cell Biology of Infectious and Non-Communicable Diseasesen_US
dc.identifier.citationAmuzu DS, Rockett KA, Leffler EM, et al. High-throughput genotyping assays for identification of glycophorin B deletion variants in population studies. Experimental Biology and Medicine. 2021;246(8):916-928. doi:10.1177/1535370220968545en_US
dc.identifier.issn1535-3702
dc.identifier.issn1535-3699
dc.identifier.urihttp://hdl.handle.net/123456789/1574
dc.language.isoenen_US
dc.publisherExperimental Biology and Medicineen_US
dc.relation.ispartofseriesExperimental Biology and Medicine;2021; 246
dc.subjectGlycophorinsen_US
dc.subjectWACCBIP_NCDSen_US
dc.subjectUniversity of Ghanaen_US
dc.subjectFelix Ansahen_US
dc.subjectNicholas Amoakoen_US
dc.subjectmalariaen_US
dc.subjectPlasmodiumen_US
dc.subjectred blood cellen_US
dc.subjectinvasionen_US
dc.subjectGYPB deletionen_US
dc.titleHigh-throughput genotyping assays for identification of glycophorin B deletion variants in population studiesen_US
dc.typeArticleen_US
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