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

David Albuquerque, Licínio Manco, Kovana M. Loua, Ana Paula Arez, Maria De Jesus Trovoada, Luís Relvas, Tamba S. Millimono, Silvia L. Rath, Dinora Lopes, Fátima Nogueira, Luís Varandas, Manuela Alvarez, M. Letícia Ribeiro

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12 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)378-381
Number of pages4
JournalAnnals Of Human Biology
Issue number3
Publication statusPublished - May 2011


  • 744G → T(Q248H) mutation
  • Ferroportin
  • polymorphisms IVS1(-24)G → C and (CGG)n
  • SLC40A1 gene


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