Pitfalls in the genetic diagnosis of hereditary hemochromatosis

Genetic Testing

Volumn 4, Issue 2, 2000, Pages 143-146

  Jeffrey, G P ^a   Adams, P C ^b  

^a University Dept of Medicine   (Australia)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FERRITIN; IRON;

ARTICLE; GENE; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HUMAN; IRON OVERLOAD; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

FEMALE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0033890740     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/10906570050114849     Document Type: Article

References (32)

1. Population screening for haemochromatosis
2. Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria
3. Population screening for hemochromatosis: A comparison of unbound iron binding capacity, transferrin saturation and C282Y genotyping
4. A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing
5. HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors
6. Molecular medicine and hemochromatosis: At the crossroads
7. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
8. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion
9. Mutation analysis in hereditary hemochromatosis
10. The significance of haemochromatosis gene mutations in the general population: Implications for screening
11. PCR conditions for HFE C282Y: Lack of effect of 5569G/A polymorphism with 55 degrees C annealing
12. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
13. Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis
14. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
15. Genotyping errors with the polymerase chain reaction
16. Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene
17. Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results
18. Haemochromatosis and HLA-H
19. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
20. Haemochromatosis and HLA-H
21. Anomalies in a DNA test for haemochromatosis
22. Two novel single-base-pair substitutions adjacent to the CAG repeat in the huntington disease gene (IT15): Implications for diagnostic testing
23. Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri
24. Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium
25. Incorrect diagnosis of hereditary hemochromatosis
26. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
27. Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results
28. A population-based study of the clinical expression of the hemochromatosis gene
29. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
30. Genotyping as a diagnostic aid in genetic haemochromatosis
31. An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis
32. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote