Walid Algady and Edward J Hollox
University of Leicester, UK
Posters & Accepted Abstracts: Human Genet Embryol
Human glycophorins A and B are proteins expressed on the surface of erythrocytes and are receptors for Plasmodium falciparum invasion of this cell type. Both proteins are encoded by the genes GYPA and GYPB which, together with GYPE, reside on a tandemly-duplicated repeat region on chromosome 4q31.21. Recent genetic analysis has suggested that a particular haplotype within or close by this gene cluster is protective against severe malaria. The relation between this haplotype and copy number variation (CNV) of the glycophorin genes and the role of glycophorion gene CNV in malaria remains unclear. Here, we present a rapid, cost-effective, robust suite of assays to type copy number of this gene cluster and some preliminary data using these assays. We use the paralogue ratio test (PRT), a comparative PCR method which has been shown to be more robust than real-time quantitative PCR for typing genomic CNV and has been previously used on a wide variety of CNV loci. It requires <50 ng genomic DNA and has a low cost per sample, making it ideal for genotyping large DNA cohorts to test for association with malaria severity, for example.