Regan Wood


Detection of a Population-Specific Mutation in a Zinc Transporter Gene using Blood DNA and qPCR

The increasing interest in nutritional research allows for advances in studying the effects of micronutrient deficiencies on the human body. The functions of zinc, an essential metal nutrient, are becoming more widely regarded as crucial for normal gene expression and cellular development. Cellular zinc homeostasis is regulated by two families of zinc transporter proteins, ZIP and ZnT. ZIP transporters bring extracellular or organellar zinc into the cytosol of cells. Recently, a mutation specific to the African population has been identified in a ZIP gene, ZIP10. The mutation is predicted to result in a change of the amino acid sequence of the protein. Notably, infections of the red blood cells and anemia are highly prevalent in African populations, and ZIP10 is expressed in red blood cells. The current project aimed to test a qPCR-based genotyping assay for detecting the African ZIP10 variant. Genomic DNA was isolated from previously frozen whole blood samples of healthy Ugandan children (n = 100). Genotypes were determined using a custom qPCR assay designed to detect the common and mutant alleles of ZIP10. Our findings introduce a novel tool for the detection of ZIP10 variants, which may have implications for treatment of zinc-associated hematological disorders common in African populations. 

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