Duplex polymerase chain reaction-restriction fragment length polymorphism assay for rapid detection of HFE mutations - C282Y occurs with a low frequency in Tehran's population [1]

Journal of Hepatology

Volumn 40, Issue 3, 2004, Pages 559-560

  Bakayev, V ^a   Ignatiev, I ^b   Jazayeri, M ^a   Mohaghegh, H ^a   Zborovsky, S ^c   Zali, M R ^a  

^a SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b STATE RESEARCH INSTITUTE OF GENETICS AND SELECTION OF INDUSTRIAL MICROORGANISMS   (Russian Federation)

^c NATIONAL RESEARCH CENTER FOR HEMATOLOGY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

ACRYLAMIDE DERIVATIVE; BUFFER; DNA FRAGMENT; HFE PROTEIN; TAQ POLYMERASE;

ALLELE; CLINICAL FEATURE; CODON; DNA DENATURATION; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; LETTER; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TEMPERATURE DEPENDENCE; VALIDATION PROCESS;

EID: 1242314790     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2003.09.029     Document Type: Letter

References (9)

1. Feder J.N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D.A., Basava A., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 13:1996;399-408.
2. Brissot P. Hemochromatosis at the intersection of classical medicine and molecular biology. C R Acad Sci III. 324:2001;795-804.
3. Bonkovsky H.L., Jawaid Q., Tortorelli K., LeClair P., Cobb J., Lambrecht R.W., et al. Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis. J Hepatol. 31:1999;421-429.
4. Ropero Gradilla P., Villegas Martinez A., Fernandez Arquero M., Garcia-Agundez J.A., Gonzalez Fernandez F.A., Benitez Rodriguez J., et al. C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease. Rev Esp Enferm Dig. 93:2001;156-163.
5. Jazwinska E.C., Cullen L.M., Busfield F., Pyper W.R., Webb S.I., Powell L.W., et al. Nat Genet. 14:1996;249-251.
6. Lynas C. A cheaper and more rapid polymerase chain reaction-restriction fragment length polymorphism method for the detection of the HLA-H gene mutations occurring in hereditary hemochromatosis. Blood. 90:1997;4235-4236.
7. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215-1218.
8. Zborovsky S.S., Misyurin A.V., Scherbinina S.P. A first attempt of genetic testing hereditary hemochromatosis in Russia. Hematol Transfusiol (Rus). 46:2001;64-65.
9. Chang J.-G., Liu T.-C., Lin S.-F. Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction - a very rare mutation in the Chinese population. Blood. 89:1997;3492-3493.