- Autores: Albuquerque D, Alvarez M, Arez AP, Lopes D, Loua KM, Manco L, Millimono TS, Nogueira F, Rath SL, Relvas L, Ribeiro ML, Trovoada Mde J, Varandas L
- Journal: Annals of human biology
- Link: http://www.ncbi.nlm.nih.gov/pubmed/?term=SLC40A1+Q248H+allele+frequencies+and+associated+SLC40A1+haplotypes+in+three+West+African+population+samples.
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.
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.
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).
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).