Abnormal regulation of HFE mRNA expression may not contribute to primary iron overload

Haematologica

Volumn 85, Issue 8, 2000, Pages 787-791

  Vercesi, E ^a   Cerani, P ^a   Rolandi, V ^a   Rovati, A ^a   Bergamaschi, G ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Coding sequence; Hereditary hemochromatosis (HHC); HFE mRNA; Point mutations; RT PCR

Indexed keywords

GENE PRODUCT; IRON; MESSENGER RNA; MUTANT PROTEIN; PROTEIN HFE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHROMOSOME 1Q; CLINICAL ARTICLE; FEMALE; GENE EXPRESSION REGULATION; GENE MAPPING; GENE MUTATION; HEMOCHROMATOSIS; HETEROZYGOTE; HUMAN; IRON ABSORPTION; IRON OVERLOAD; MALE; PATHOGENESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SUBSTITUTION; COMPARATIVE STUDY; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ELECTROPHORESIS, AGAR GEL; ETHNIC GROUPS; EUROPE; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMAN; IRON; ITALY; MALE; MIDDLE AGE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SUPPORT, NON-U.S. GOV'T;

EID: 0033830688     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Juvenile hemochromatosis locus maps to chromosome 1q
2. Molecular genetics and control of iron metabolism in hemochromatosis
3. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
4. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
5. Iron, HFE and hemochromatosis update
6. HFE mutation analysis in 711 hemochromatosis probands: Evidence for S65C in mild form of hemochromatosis
7. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
8. A new syndrome of liver iron overload with normal transferrin saturation
9. Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder
10. Hereditary juvenile haemochromatosis: A genetically heterogeneous life-threatening iron-storage disease
11. Evidence of genetic transmission in African iron overload
12. Polymorphisms in the HFE gene
13. Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: Comparison of the human, mouse and rat HFE promoter regions
14. A simple salting out procedure for extracting DNA from human nucleated cells
15. Hemochromatosis-related mutation detection
16. A cheaper and more rapid polymerase chain reaction-restriction fragment length polymorphism method for the detection of the HLA-H mutations occurring in hereditary hemochromatosis
17. Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction
18. Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
19. The significance of haemochromatosis gene mutations in the general population: Implications for screening
20. The C282Y mutation causing hereditary hemochromatosis does not produce a null allele
21. A population-based study of the clinical expression of the hemochromatosis gene