Abstract
To identify the main variations sites at the coding region of the HFE gene in the Brazilian population, construct haplotypes and suggest a nomenclature. We sequenced the HFE coding region (exon 2, 3, 4, 5) and intron boundaries in a population sample of 100 healthy individuals and 184 patients (hereditary hemochromatosis, hepatitis C and hepatocellular cancer) from Ribeirão Preto, Southeastern Brazil. Exons were chosen since they code the major domains of HFE protein. The variations observed were used for the inference of 13 HFE alleles using the ARLEQUIN, and PHASE softwares. Haplotypes were named following the IMGT nomenclature rules. Seven variation were observed at the HFE gene: H63D C > G in exon 2 (rs1799945) a , IVS2 (+4) T > C in intron 2 (rs2071303) b , the intron 3 C > G (rs807209) c , C282Y G > A in exon 4 (rs1800562) d , intron 4 G > A (rs2794717) e , IVS4 (-44) T > C (rs1800708) f , in intron 5 a new deletion G > del g . The reconstructed haplotype are shown in Table 1 . This study presents a comprehensive evaluation of the variability of the HFE gene in the Brazilian population. It provides a contribution for population genetics and case-control association studies. Finally, this paper proposes a standardized nomenclature.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
