SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples

• Published in: Annals of human biology Vol. 38; no. 3; pp. 378 - 381
• Main Authors: Albuquerque, David, Manco, Licínio, Loua, Kovana M., Arez, Ana Paula, Trovoada, Maria de Jesus, Relvas, Luís, Millimono, Tamba S., Rath, Silvia L., Lopes, Dinora, Nogueira, Fátima, Varandas, Luís, Alvarez, Manuela, Ribeiro, M. Letícia
• Format: Journal Article
• Language: English
• Published: England Informa Healthcare 01.05.2011
• Subjects: Africa South of the Sahara; Amino Acid Substitution - genetics; Black or African American; Black People - genetics; Cation Transport Proteins - genetics; Chromosomes, Human - genetics; Gene Frequency - genetics; Haplotypes - genetics; Humans; Mutation - genetics; Africa South of the Sahara
• ISSN: 0301-4460; 1464-5033; 1464-5033
• DOI: 10.3109/03014460.2010.541496

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. Tomé e Príncipe (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. Tomé e Príncipe, 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.