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  • Title: Estimation of secretor status of ABO antigens by high-resolution melting analysis of rs601338 (428G > A).
    Author: Soejima M, Koda Y.
    Journal: Clin Chim Acta; 2021 Jun; 517():86-91. PubMed ID: 33667483.
    Abstract:
    BACKGROUND: FUT2 determines the secretor status of ABH antigens. Many lines of evidence suggest an association between secretor status and susceptibility to various clinical conditions. For this kind of study, large-scale genotyping of FUT2 is necessary. Because FUT2 has a pseudogene (SEC1) with high DNA sequence similarity and is rich in population-specific SNPs, we need to pay attention in designing the primers for genotyping FUT2. The se428 allele having a 428G > A nonsense SNP (W143X, rs601338) is the predominant non-secretor allele in Europeans, Latin Americans and Africans. On the other hand, se357,480,778del having the 778C > del frameshift SNP (P260Lfs*16, rs1799761) is almost exclusively found in Africans with frequencies of 1-4%. STUDY DESIGN AND METHODS: We developed high-resolution melting (HRM) analyses using short (69-bp for 428G > A, 65-bp for 778C > del) amplicons for genotyping two SNPs directly and validated the method by analyzing 95 Ghanaians whose FUT2 genotypes were previously determined. RESULTS: Two sets of assays clearly discriminated three genotypes of 428G > A (G/G, G/A, A/A), and two genotypes of 778C > del (C/C, C/del). In addition, the results obtained for the 95 Ghanaians by HRM analysis were in full agreement with previous ones. CONCLUSION: The present HRM analysis reliably genotyped 428G > A. Thus, estimation of secretor status based on se428 using the present HRM analysis may be useful for large scale association studies of FUT2. In addition to 428G > A, genotyping of other causal polymorphisms for non-secretors with high frequency, as is the case with 778C > del for Africans, is desirable for more accurate estimation of the secretor status of the target populations.
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