BACKGROUND: Ferroportin is a transmembrane protein responsible for iron export from enterocytes and macrophages. Mutation c.744G ? T (Q248H), located in exon 6 of the ferroportin gene SLC40A1, is found as a polymorphism in populations of African origin. This mutation has been extensively analysed in African-Americans, but poorly studied in native African populations.AIM: To increase information about Q248H mutation frequency in native sub-Saharan populations examining three West African populations.SUBJECTS AND METHODS: Samples from S. Tom? e Pr?ncipe (n = 115), Angola (n = 156) and Republic of Guinea (n = 170) were analysed for Q248H mutation and for two polymorphisms, IVS1( - 24)G ? C and microsatellite (CGG)(n), using standard molecular methodology.RESULTS: The estimated frequencies of Q248H allele were 2.2% in S. Tom? e Pr?ncipe, 3.5% in Angola and 4.1% in Republic of Guinea. Analysis of polymorphisms IVS1( - 24)G ? C and (CGG)(n) showed mutation allele c.744T to be strongly associated with haplotype IVS1( - 24)G/(CGG)(7).CONCLUSIONS: This study confirmed the presence of Q248H mutation at polymorphic frequencies in three native sub-Saharan populations. Analysis of two additional markers in the same gene support a single origin of the mutant allele c.744T in the haplotype background IVS1( - 24)G/(CGG)(7).
Africa South of the Sahara African Continental Ancestry Group