title: SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples.
abstract: 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.
  
  
  OBJECTIVE
  To increase information about Q248H mutation frequency in native sub-Saharan populations examining three West African populations.
  
  
  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).
authors.affiliation: Department of Life Sciences, University of Coimbra, Portugal.
authors.forename: David
authors.initials: D
authors.lastname: Albuquerque
authors.forename: Licínio
authors.initials: L
authors.lastname: Manco
authors.forename: Kovana M
authors.initials: KM
authors.lastname: Loua
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Arez
authors.forename: Maria de Jesus
authors.initials: Mde J
authors.lastname: Trovoada
authors.forename: Luís
authors.initials: L
authors.lastname: Relvas
authors.forename: Tamba S
authors.initials: TS
authors.lastname: Millimono
authors.forename: Silvia L
authors.initials: SL
authors.lastname: Rath
authors.forename: Dinora
authors.initials: D
authors.lastname: Lopes
authors.forename: Fátima
authors.initials: F
authors.lastname: Nogueira
authors.forename: Luís
authors.initials: L
authors.lastname: Varandas
authors.forename: Manuela
authors.initials: M
authors.lastname: Alvarez
authors.forename: M Letícia
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D017954:Africa South of the Sahara; D019943:Amino Acid Substitution / Q000235:genetics*; D044383:Black People / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D002877:Chromosomes, Human / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D001741:Black or African American; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D000098742:Ferroportin