title: [The importance of DNA analysis of C282Y, H63D and S65C mutations in the HFE gene].
abstract: BACKGROUND
  Hereditary hemochromatosis is a relatively common genetic disease characterized by increased iron absorption and deposition in major organs of the body. The aim of this study was to determine the prevalence of C282Y, H63D and S65C mutations in the HFE gene in patients suspected of hereditary hemochromatosis and to compare it with healthy subjects (control group).
  
  
  METHODS
  The group of patients consisted of 95 males and 45 females (median age 55 years, range 20 to 83 years). The control group was represented by 167 volunteers of Caucasian origin (65 males and 102 females, median age 25 years, range 18 to 62 years). The PCR/RFLP genetic analysis was used to detect mutations in the HFE gene.
  
  
  RESULTS
  Allelic frequencies of C282Y, H63D, and S65C in the groups of patients were 18.2 %, 17.5 %, and 1.8 %, respectively. The frequencies of the alleles in the control group were 5.7 % (C282Y), 12.3 % (H63D), and 0.6 % (S65C).
  
  
  CONCLUSIONS
  Our results show significant differences in the frequency of C282Y mutation between the patients suspected of hereditary hemochromatosis and the control group (18.2 % vs. 5.7 %). The prevalence of H63D and S65C mutations in both groups was not statistically significant.
authors.affiliation: Univerzita Karlova v Praze, Ustav klinicke biochemie a diagnostiky. monika.drastikova@fnhk.cz
authors.forename: Monika
authors.initials: M
authors.lastname: Drastíková
authors.forename: Martin
authors.initials: M
authors.lastname: Beránek
authors.forename: Jaroslava
authors.initials: J
authors.lastname: Hegerová
authors.forename: Daniela
authors.initials: D
authors.lastname: Putzová
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D055815:Young Adult
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins