AI Article Synopsis
- Ferroportin is crucial for iron export and the Q248H mutation, common in people of African descent, was analyzed in three West African populations to better understand its frequency.
- The study examined samples from S. Tomé e Príncipe, Angola, and Republic of Guinea, discovering Q248H frequencies of 2.2%, 3.5%, and 4.1%, respectively.
- Results indicate a strong association between the Q248H mutation and specific genetic markers, suggesting a common origin of the mutation in these sub-Saharan populations.
Article 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.
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).
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| http://dx.doi.org/10.3109/03014460.2010.541496 | DOI Listing |
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Article Synopsis
- Iron is super important for living things, and a protein called Ferroportin (FPN) helps carry iron out of red blood cells.
- A mutation in FPN called Q248H can help some people resist pregnant conditions, like anemia, and it was thought to possibly help against malaria.
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