Document Detail

Hereditary hemochromatosis in Spain.
MedLine Citation:
PMID:  10953957     Owner:  NLM     Status:  MEDLINE    
The C282Y mutation of the HFE gene has been reported as the main cause of hereditary hemochromatosis (HH). Another missense mutation (H63D) has also been detected at an increased frequency in a compound heterozygote state with the C282Y mutation in HH patients. However, these two mutations are not present in all of the HH patients, indicating that other mutations in the HFE gene, or in other loci, should exist. The present study reports the frequencies of the C282Y and H63D mutations in 74 Spanish HH patients and the results of the sequencing analysis of the HFE exons, intron-exon boundaries, and 588 bp of the 5' region in 5 patients negative for the C282Y mutation. We have detected a high frequency of the C282Y mutation (85.1%) in Spanish HH patients, indicating that this mutation is the most common defect associated with the disease in Spain. The screening of the HFE regions in our patients without the C282Y mutation has revealed the presence of five polymorphisms. However, no other pathological mutations have been found. Therefore, further efforts to characterize the unscreened part of the HFE gene or other loci should be taken to identify the potential genetic factors causing HH in the C282Y-negative patients.
M Sánchez; M Bruguera; E Quintero; Y Barrio; R Mazzara; J Rodés; R Oliva
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genetic testing     Volume:  4     ISSN:  1090-6576     ISO Abbreviation:  Genet. Test.     Publication Date:  2000  
Date Detail:
Created Date:  2000-11-27     Completed Date:  2000-12-07     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9802546     Medline TA:  Genet Test     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  171-6     Citation Subset:  IM    
Genetics Service, IDIBAPS Institut d'Investigacions Biomèdiques August Ri i Sunyer, Hospital Clinic and University of Barcelona, Spain.
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MeSH Terms
Base Sequence
DNA Primers
Genetic Testing
HLA Antigens / genetics
Hemochromatosis / epidemiology*,  genetics
Histocompatibility Antigens Class I / genetics
Membrane Proteins*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Spain / epidemiology
Reg. No./Substance:
0/DNA Primers; 0/HFE protein, human; 0/HLA Antigens; 0/Histocompatibility Antigens Class I; 0/Membrane Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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