Hfe mutations in the normal portuguese population: Regional differences for the frequency of C282Y mutation

• Type: Article in International Scientific Journal
• Date: 2001

Authors

Cardoso, C (Author) Other; Oliveira, P (Author) Other; Oberkanins, C (Author) Other; Mascarenhas, M (Author) Other; Rodrigues, P (Author) ICBAS; Sa Miranda, C (Author) Other; Kury, F (Author) Other; De Sousa, M (Author) Other; Porto, G (Author) ICBAS

Journal

Title: European Journal of Immunogenetics

Vol. 28

Final page: 290

ISSN: 0960-7420

Publisher: Blackwell

Indexing

ISI Web of Knowledge

Scopus - 1 Citation

Other information

Authenticus ID: P-007-DDP

Abstract (EN): The present work was motivated by a previous study of reference values for iron parameters in Portugal, where regional differences in iron parameters were found between north and south. These differences were reflected on the prevalence of iron overload and iron deficiency in the two regions Iron deficiency was found significantly more frequent in the south, in contrast with iron overload that was found more commonly in the north (Porto et al. J Lab Clin Med 1992; 119: 295-305). In 1996. Feder et al. reported the candidate gene for HH. a non-classical MHC-class I gene denominated Hfe. in which two mutations were identified: C282Y and H63D (Feder et al. Nature Genet 1996; 13: 399-408). The C282Y mutation in homozygosity is responsible for the majority of HH cases. The H63D mutation is found in polymorphic frequencies in the control population. The aim of the present work was to estimate the frequency of the C282Y and H63D Hfe mutations in Portugal comparing the different regions. A stratified sample of 640 anonymous, dried blood samples from the neonatal screening program in Portugal were randomly selected from the major regions of Portugal: North (n=129), Center (n=130), Lisbon and Tagus Valley (n=133), Alentejo (n=132) and Algarve (n=116). The two HFE mutations were detected by PCR amplification followed by allele-specific hybridization. The results in terms of allelic frequencies differed for the two Hfe mutations. The frequency of the C282Y mutation declines from North to South. In the North an allelic frequency of 0.058 is observed contrasting with the allelic frequency of 0.009 found in Algarve. The allelic frequency of the H63D mutation did not differ significantly among regions, ranging from 0.15 in Lisbon to 0.20 in Center. These results are in accordance with the previous study and reinforce the importance of taking into account the existence of regional differences in the design of strategies for both screening and diagnosis of HH. The geographical differences in the C282Y frequency in Portugal could be explained by differences in historical population settlements namely the occupation of Celtic people or the later Nordic occupation that occurred mainly in the north of the country. Alternatively, the finding of regional differences on a single gene may suggest the effect of differential selective forces in different geographical areas. © 2001 Blackwell Science Ltd.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 1