Two Novel Missense Mutations of the HFE Gene (I105T and G93R) and Identification of the S65C Mutation in Alabama Hemochromatosis Probands

Blood Cells, Molecules, and Diseases - Tập 25 Số 3 - Trang 147-155 - 1999
James C. Barton1, Ritsuko Sawada-Hirai2, Barry E. Rothenberg3, Ronald T. Acton3
1Southern Iron Disorders Center, Birmingham, Alabama
2Billups-Rothenberg, Inc. San Diego, California
3Immunogenetics/DNA Diagnostic Laboratory and Department of Microbiology, University of Alabama at Birmingham, Birmingham, Alabama

Tóm tắt

Từ khóa


Tài liệu tham khảo

Edwards, 1988, Prevalence of hemochromatosis among 11,065 presumably healthy blood donors, N Engl J Med, 318, 1355, 10.1056/NEJM198805263182103

Witte, 1996, Practice parameter for hereditary hemochromatosis, Clin Chim Acta, 245, 139, 10.1016/0009-8981(95)06212-2

Feder, 1996, A novel MHC class-I-like gene is mutated in patients with hereditary hemochromatosis, Nat Genet, 14, 399, 10.1038/ng0896-399

Beutler, 1996, Mutation analysis in hereditary hemochromatosis, Blood Cells Mol Dis, 22, 187, 10.1006/bcmd.1996.0027

Barton, 1997, Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis, Blood Cells Mol Dis, 23, 135, 10.1006/bcmd.1997.0129

Burke, 1998, Hemochromatosis: gene discovery and its implications for population-based screening, JAMA, 280, 172, 10.1001/jama.280.2.172

Carella, 1997, Mutation analysis of the HLA-H gene in Italian hemochromatosis patients, Am J Hum Genet, 60, 828

Barton, 1996, Hemochromatosis: association of severity of iron overload with genetic markers, Blood Cells Mol Dis, 22, 195, 10.1006/bcmd.1996.0100

Beutler, 1997, HLA-H and associated proteins in patients with hemochromatosis, Mol Med, 6, 397, 10.1007/BF03401686

Douabain, 1999, Polymorphisms in the HFE gene, Hum Hered, 49, 21, 10.1159/000022835

Bernard, 1998, Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes, Am J Pathol, 153, 1055, 10.1016/S0002-9440(10)65650-7

Barton, 1997, Diagnosis of hemochromatosis in a community hospital, Am J Med, 103, 498, 10.1016/S0002-9343(97)00276-3

Barton, 1998, Management of hemochromatosis, Ann Intern Med, 129, 932, 10.7326/0003-4819-129-11_Part_2-199812011-00003

Adams, P, Barton, J, Brissot, P, et al, Prevention and control of hemochromatosis: improved diagnosis. Report of a Joint WHO/Hemochromatosis Foundation/Canadian, French and UK Hemochromatosis Associations Meeting, World Health Organization, 1998.

Crawford, 1995, Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene, Am J Hum Genet, 57, 362

Mura, 1999, HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis, Blood, 93, 2502, 10.1182/blood.V93.8.2502

Mohler, 1986, Hemochromatosis heterozygotes may have significant iron overload when they also have hereditary spherocytosis, Am J Med Sci, 292, 320, 10.1097/00000441-198611000-00014

Feder, 1998, The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding, Proc Natl Acad Sci USA, 95, 1472, 10.1073/pnas.95.4.1472

Gross, 1998, Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation, J Biol Chem, 273, 22068, 10.1074/jbc.273.34.22068

Lebrón, 1998, Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor, Cell, 93, 10.1016/S0092-8674(00)81151-4