Allele frequencies of hemojuvelin gene (HJV) 1222N and G320V missense mutations in white and African American subjects from the general Alabama population

BMC Medical Genetics

Volumn 5, Issue , 2004, Pages

  Barton, James C ^a,b   Rivers, Charles A ^b   Niyongere, Sandrine ^c   Bohannon, Sean B ^c   Acton, Ronald T ^b,c  

^a SOUTHERN IRON DISORDERS CENTER   (United States)

^b University of Alabama at Birmingham   (United States)

^c University of Alabama at Birmingham   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; CYSTEINE; GENE PRODUCT; GENOMIC DNA; GLYCINE; HEMOJUVELIN; HFE PROTEIN; IRON; ISOLEUCINE; TYROSINE; UNCLASSIFIED DRUG; VALINE; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; HFE2 PROTEIN, HUMAN; MEMBRANE PROTEIN;

ADULT; AFRICAN AMERICAN; ARTICLE; BONE MARROW; CONTROLLED STUDY; EUROPEAN AMERICAN; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; IRON ABSORPTION; IRON BLOOD LEVEL; IRON OVERLOAD; IRON STORAGE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; RACE DIFFERENCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SAMPLING; UNITED STATES; ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; CAUCASIAN; GENETICS; MALE; METHODOLOGY; POPULATION GENETICS;

ADOLESCENT; ADULT; AFRICAN AMERICANS; ALABAMA; ALLELES; AMINO ACID SUBSTITUTION; ASPARAGINE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETICS, POPULATION; GLYCINE; GPI-LINKED PROTEINS; HUMANS; ISOLEUCINE; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; VALINE;

EID: 26444543900     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-5-29     Document Type: Article

References (28)

1. Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP: Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004, 36:77-82.
2. Lanzara C, Roetto A, Daraio F, Rivard S, Ficarella R, Simard H, Cox TM, Cazzola M, Piperno A, Gimenez-Roqueplo AP, Grammatico P, Volinia S, Gasparini P, Camaschella C: Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood 2004, 103:4317-4321.
3. Lee PL, Beutler E, Rao SV, Barton JC: Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood 2004, 103:4669-4671.
4. Robson KJ, Merryweather-Clarke AT, Cadet E, Viprakasit V, Zaahl MG, Pointon JJ, Weatherall DJ, Rochette J: Recent advances in understanding haemochromatosis: a transition state. J Med Genet 2004, 41:721-730.
5. Lee PL, Barton JC, Brandhagen D, Beutler E: Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. Br J Haematol 2004, 127:224-229.
6. Barton JC, Shih WW, Sawada-Hirai R, Acton RT, Harmon L, Rivers C, Rothenberg BE: 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 1997, 23:135-145.
7. Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT: Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol Dis 1999, 25:147-155.
8. Barton JC, Acton RT, Rivers CA, Bertoli LF, Gelbart T, West C, Beutler E: Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. Blood Cells Mol Dis 2003, 31:310-319.
9. Le Gac G, Scotet V, Ka C, Gourlaouen I, Bryckaert L, Jacolot S, Mura C, Ferec C: The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. Hum Mol Genet 2004, 13:1913-1918.
10. Huang FW, Rubio-Aliaga I, Kushner JP, Andrews NC, Fleming MD: Identification of a novel mutation (C321X) in HJV. Blood 2004, 104:2176-2177.
11. Pissia M, Polonifi K, Politou M, Lilakos K, Sakellaropoulos N, Papanikolaou G: Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece. Haematologica 2004, 89:742-743.
12. Barton JC, Rao SV, Pereira NM, Gelbart T, Beutler E, Rivers CA, Acton RT: Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. Blood Cells Mol Dis 2002, 29:104-115.
13. Kaltwasser JP: Juvenile hemochromatosis. In Hemochromatosis. Genetics, pathophysiology, diagnosis, and treatment Edited by: Barton JC and Edwards CQ. Cambridge, Cambridge University Press; 2000:318-328.
14. Rivard SR, Mura C, Simard H, Simard R, Grimard D, Le Gac G, Raguenes O, Ferec C, De Braekeleer M: Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada). Blood Cells Mol Dis 2000, 26:10-14.
15. Kelly AL, Rhodes DA, Roland JM, Schofield P, Cox TM: Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. QJM 1998, 91:607-618.
16. Varkonyi J, Kaltwasser JP, Seidl C, Kollai G, Andrikovics H, Tordai A: A case of non-HFE juvenile haemochromatosis presenting with adrenocortical insufficiency. Br J Haematol 2000, 109:252-253.
17. Montes-Cano M, Gonzalez-Escribano MF, Aguilar J, Nunez-Roldan A: Juvenile hemochromatosis in a Spanish family. Blood Cells Mol Dis 2002, 28:297-300.
18. Roetto A, Totaro A, Cazzola M, Cicilano M, Bosio S, D'Ascola G, Carella M, Zelante L, Kelly AL, Cox TM, Gasparini P, Camaschella C: Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 1999, 64:1388-1393.
19. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo RJ, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Wolff RK: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996, 13:399-408.
20. Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, Kosty M, Venditti CP, Phatak PD, Seese NK, Chorney KA, Ten Elshof AE, Gerhard GS, Chorney M: Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 1996, 22:187-194.
21. Beutler E: The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 1997, 61:762-764.
22. Adams PC, Chakrabarti S: Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria. Gastroenterology 1998, 114:319-323.
23. Mura C, Raguenes O, Ferec C: HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 1999, 93:2502-2505.
24. Rossi E, Henderson S, Chin CY, Olynyk J, Beilby JP, Reed WD, Jeffrey GP: Genotyping as a diagnostic aid in genetic haemochromatosis. J Gastroenterol Hepatol 1999, 14:427-430.
25. Gochee PA, Powell LW, Cullen DJ, Du SD, Rossi E, Olynyk JK: A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology 2002, 122:646-651.
26. Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P: The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000, 25:14-15.
27. Beutler E, Felitti V, Gelbart T, Ho N: The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med 2000, 133:329-337.
28. Beutler E, Barton JC, Felitti VJ, Gelbart T, West C, Lee PL, Waalen J, Vulpe C: Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. Blood Cells Mol Dis 2003, 31:305-309.