Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families

Genetic Counseling

Volumn 9, Issue 3, 1998, Pages 181-186

  Mercier, G ^a   Burckel, A ^a   Bathelier, C ^b   Boillat, E ^c   Lucotte, G ^d,e  

^a Burckel Laboratory   (France)

^b Laboratoire d'Analyses Medicales du Dr Claude Levy   (France)

^c Boillat Laboratory   (Switzerland)

^d REIMS UNIVERSITY HOSPITAL   (France)

^e HÔPITAL MAISON BLANCHE   (France)

Author keywords

C282Y mutation; Hemochromatosis; HLA H gene

Indexed keywords

HLA ANTIGEN;

ARTICLE; CONTROLLED STUDY; FEMALE; FRANCE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HEMOCHROMATOSIS; HUMAN; HUMAN TISSUE; IMMUNOGENETICS; MAJOR CLINICAL STUDY; MALE;

AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; FRANCE; GENE FREQUENCY; GENES, MHC CLASS I; GENETIC COUNSELING; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; MALE; MEMBRANE PROTEINS; PEDIGREE; POINT MUTATION;

EID: 0031786823     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. BEUTLER J.G., GELBART T., WEST C., LEE P., ADAMS M., BLACKSTONE R., POCKROS P., KOSTY M., VENDITTI C., PHATAK P.D., SEESE N.K., CHORNEY K.A., ELSHOF A.E.T., GERHARD G.S. and CHORNEY M.: Mutation analysis in hereditary hemochromatosis. Blood Cells Mol. Dis., 1996, 22, 187-194.
2. BODMER J.G., PARHAM P., ALBERT E.D. and MARSH S.G.E.: Putting a hold on «HLA-H». Nature Genet., 1997, 15, 234-235.
3. BOROT N., ROTH M.P., MALFROY L., DEMANGEL C., VINEL J.P., PASCAL J.P . and COPPIN H.: Mutations in the MHC class I-like gene for hemochromatosis in French patients. Immunogenetics, 1997, 45, 320-324.
4. CALANDRO L., THORSEN T., BARCELLOS L., GRIGGS J., BAER D. and SENSABAUGH G.F. (Commentary,). Blood Cells Mol. Dis., 1996, 22, 194a-194b.
5. CARELLA M., D'AMBROSIO, L., TOTARO A., GRIFA A., VALENTINO M.A., PIPERNO A., GIRELLI D., ROETTO A., FRANCO B., GASPARINI P. and GAMASCHELLA C.: Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am. J. Hum. Genet., 1997, 60, 828- 832
6. . 6.COULONDRE C. and LUCOTTE G.: The molecular basis of the association between HLA-A3 and idiopathic hemochromatosis. Exp. Clin. Immunogenet., 1984, 1, 25-30.
7. EDWARDS C.Q., GRIFFEN L.M., GOLDGAR D., DRUMMOND M.H., SKOLNICK M.H. and KUSHNER J.P.: Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. New Engl. J. Med , 1988, 318, 1355-1362.
8. FEDER J.N., GNIRKE A., THOMAS W., TSUCHIHASHI Z., RUDDY D.A., BASAVA A., DORMISHIAN F., DOMINGO R., ELLIS M.C., FULLAN A., HINTON L.M., JONES N.L., KIMMEL B.E., KRONMAL G.S., LAUER P., LEE V.K., LOEB D.B., MAPA F.A., MCCLELLAND E., EYER N.C., MINTIER G.A., MOELLER N., MOORE T., MORIKANG E., PRASS C.E., QUINTANA L., STARNES S.M., SCHATZMAN R.C., BRUNKE K.J., DRAYNA D.T., RISK N.J., BACON B.R. and WOLFF R.K.: A novel MHC class-I like gene is mutated in patients with hereditary hemochromatosis. Nature Genet., 1996, 13, 349-408.
9. JAZWINSKA E.C., CULLEN L.M., BUSFIELD F., PYPER W.R., WEBB S.I., POWELL L.W., MORRIS C.P. and WALSH T.P.: Hemochromatosis and HLA-H. Nature Genet., 1996, 14, 249-251.
10. JOUANOLLE A.M., GANDON G., JÉZÉQUEL P., BLAYAU M., CAMPION M.L., MOSSER J., FERGELOT P., CHAUVEL B., BOURIC P., CARN G., ANDRIEUX N., GICQUEL I., Le GALL J.Y. and DAVID V.: Hemochromatosis and HLA-H. Nature Genet., 1996, 14, 251-252.
11. LUCOTTE G. and COULONDRE C.: Association between a 10 kb PvuII restriction fragment of genomic DNA with the hemochromatosis gene. Exp. Clin. Immunogenet., 1986, 3, 219-223.
12. MARTINEZ P.A., JEANJEAN P., MASMEJEAN C., GUILLARD A., BIRON C., RABESANDRATANA H. and SCHVED J.F.: Simple and rapid detection of the newly described mutations in the HLA-H gene. Blood, 1997, 89, 1835-1836.
13. ROTHENBERG B.E. and VOLAND J.R.: β2-kn ockout mice develop parenchymal iron overload: a putative role for class I genes in the major histocompatibility complex in iron metabolism. Proc. Natl. Acad. sci. USA., 1996, 93, 1529-1534.
14. SANTOS M., SCHILHAM M.W., RADEMAKERS L.H., MARX J.J., De SOUSA M. and CLEVERS H.: Defective iron hemochromatosis in β-2 microglobulin knockout mice recapitulates hereditary hemochromatosis in man. J. Exp. Med., 1996, 184, 1975-1985.
15. SIMON M., BOUREL M., FAUCHET R. and GENETET B.: Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis. Gut, 1976, 17, 332-334.