PMID: 9550327Apr 29, 1998Paper

HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis

Tissue Antigens
R GottschalkJ P Kaltwasser

Abstract

Genetic hemochromatosis (GH) is closely associated with genes of the major histocompatibility complex (MHC) on chromosome 6. Recently, a candidate gene for GH, with structural similarities to MHC class I genes, designated HLA-H and presently named HFE, has been cloned. The HFE gene is localized telomeric to the MHC and several reports have indicated that the HFE gene is mutated in GH patients. In the present study we have analyzed the relationship of HFE gene variants and disease manifestation in GH patients and family members. Fifty-seven patients with GH, 73 family members and 153 healthy blood donors were studied for the amino acid dimorphism at codon 63 (His63Asp=H63D) and codon 282 (Cys282Tyr= C282Y) of the HFE gene. The codon 63 and 282 dimorphism were defined by PCR amplification of genomic DNA samples and restriction enzyme digestion using RsaI/SnaBI for C282Y and BclI/MboI for H63D. Ferritin, transferrin serum levels and total iron-binding capacity were determined prior to therapeutic intervention. The Tyr-282 substitution occurred in 53 (93%) of patients compared with 8 (5.2%) of controls (OR=169, P<0.0001). Fifty-one (90%) patients were Tyr-282 homozygous. In contrast, the Asp-63 substitution was present in 5 (8.8%) ...Continue Reading

References

Jul 26, 1979·The New England Journal of Medicine·C BeaumontM Bourel
Nov 1, 1978·Tissue Antigens·P KühnlS Seidl
Mar 1, 1990·British Journal of Haematology·J P KaltwasserW Hartl
Apr 1, 1989·Baillière's Clinical Haematology·C E HallidayL W Powell
May 26, 1988·The New England Journal of Medicine·C Q EdwardsJ P Kushner
Nov 14, 1985·The New England Journal of Medicine·C NiederauG Strohmeyer
Dec 1, 1973·Journal of Clinical Pathology·R N MacSween, A R Scott
Jan 1, 1984·Human Genetics·B RitterK S Olsson
Jan 1, 1984·Acta Medica Scandinavica·K S OlssonP A Heedman
Jan 1, 1983·Acta Medica Scandinavica·K S OlssonF Staugård
Nov 1, 1982·Annals of Internal Medicine·M A Krikker
Dec 30, 1982·The New England Journal of Medicine·G M BrittenhamE M Bellon
Feb 1, 1994·Immunology Letters·M de SousaG Porto
Sep 1, 1993·Annals of Human Biology·M De Braekeleer
Feb 20, 1996·Proceedings of the National Academy of Sciences of the United States of America·B E Rothenberg, J R Voland
Nov 1, 1996·Nature Genetics·E C JazwinskaT P Walsh
Nov 1, 1996·Nature Genetics·A M JouanolleV David
Jan 1, 1996·Blood Cells, Molecules & Diseases·E BeutlerM Chorney
Dec 12, 1996·The New England Journal of Medicine·Z J BulajJ P Kushner
Feb 1, 1997·Journal of Medical Genetics·K J RobsonM Worwood
Mar 18, 1997·Clinica Chimica Acta; International Journal of Clinical Chemistry·M Worwood
Mar 18, 1997·Proceedings of the National Academy of Sciences of the United States of America·S ParkkilaW S Sly
May 1, 1997·Zeitschrift für Rheumatologie·R GottschalkJ P Kaltwasser
Feb 1, 1964·Arthritis and Rheumatism·H R SCHUMACHER

❮ Previous
Next ❯

Citations

Oct 16, 1999·Tissue Antigens·S LesterJ McCluskey
Aug 23, 2000·Genetic Testing·J J PointonK J Robson
Aug 23, 2000·Genetic Testing·M SánchezR Oliva
Aug 12, 2000·European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics·R GottschalkJ P Kaltwasser
Aug 23, 2000·Genetic Testing·J J PointonK J Robson
Aug 23, 2000·Genetic Testing·A T Merryweather-ClarkeK J Robson
Dec 28, 1999·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·A IvanovaE Wieland
Aug 23, 2000·Genetic Testing·E Beutler, T Gelbart
Jul 15, 2000·British Journal of Haematology·J VarkonyiA Tordai
Aug 23, 2000·Genetic Testing·G Lucotte, G Mercier

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics
R GottschalkJ P Kaltwasser
Clinical Chemistry
Ernest BeutlerPauline Lee
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association
Paul C AdamsHemochromatosis and Iron Overload Screening Study Research Investigators
© 2022 Meta ULC. All rights reserved