| Hereditary hemochromatosis in Spain. | |
| | |
MedLine Citation:
|
PMID: 10953957 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
M Sánchez; M Bruguera; E Quintero; Y Barrio; R Mazzara; J Rodés; R Oliva |
Related Documents
:
|
23727607 - Mh-dab gene polymorphism and disease resistance to flavobacterium columnare in grass ca... 17212677 - Haemochromatosis gene (hfe) polymorphisms and migraine: an association study. 11266617 - Stabilization of hen egg white lysozyme by a cavity-filling mutation. 18628587 - Diphyllobothriasis nihonkaiense: possibly acquired in switzerland from imported pacific... 9484717 - Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with... 14563637 - Fc gamma riiia and fc gamma riia polymorphisms do not predict response to rituximab in ... |
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 |
Affiliation:
|
Genetics Service, IDIBAPS Institut d'Investigacions Biomèdiques August Ri i Sunyer, Hospital Clinic and University of Barcelona, Spain. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Base Sequence DNA Primers Exons Genetic Testing HLA Antigens / genetics Hemochromatosis / epidemiology*, genetics Histocompatibility Antigens Class I / genetics Humans Introns Membrane Proteins* Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Spain / epidemiology |
| Chemical | |
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
Previous Document: Celtic origin of the C282Y mutation of hemochromatosis.
Next Document: A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology.