title: Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.
abstract: BACKGROUND
  Homozygosity or compound heterozygosity for coding region mutations of the hemojuvelin gene (HJV) in whites is a cause of early age-of-onset iron overload (juvenile hemochromatosis), and of hemochromatosis phenotypes in some young or middle-aged adults. HJV coding region mutations have also been identified recently in African American primary iron overload and control subjects. Primary iron overload unexplained by typical hemochromatosis-associated HFE genotypes is common in white and black adults in Alabama, and HJV I222N and G320V were detected in a white Alabama juvenile hemochromatosis index patient. Thus, we estimated the frequency of the HJV missense mutations I222N and G320V in adult whites and African Americans from Alabama general population convenience samples.
  
  
  METHODS
  We evaluated the genomic DNA of 241 Alabama white and 124 African American adults who reported no history of hemochromatosis or iron overload to detect HJV missense mutations I222N and G320V using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Analysis for HJV I222N was performed in 240 whites and 124 African Americans. Analysis for HJV G320V was performed in 241 whites and 118 African Americans.
  
  
  RESULTS
  One of 240 white control subjects was heterozygous for HJV I222N; she was also heterozygous for HFE C282Y, but had normal serum iron measures and bone marrow iron stores. HJV I222N was not detected in 124 African American subjects. HJV G320V was not detected in 241 white or 118 African American subjects.
  
  
  CONCLUSIONS
  HJV I222N and G320V are probably uncommon causes or modifiers of primary iron overload in adult whites and African Americans in Alabama. Double heterozygosity for HJV I222N and HFE C282Y may not promote increased iron absorption.
authors.affiliation: Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama. ironmd@dnamail.com
authors.forename: James C
authors.initials: JC
authors.lastname: Barton
authors.forename: Charles A
authors.initials: CA
authors.lastname: Rivers
authors.forename: Sandrine
authors.initials: S
authors.lastname: Niyongere
authors.forename: Sean B
authors.initials: SB
authors.lastname: Bohannon
authors.forename: Ronald T
authors.initials: RT
authors.lastname: Acton
mesh_terms: D000293:Adolescent; D000328:Adult; D001741:Black or African American / Q000235:genetics*; D000407:Alabama / Q000453:epidemiology; D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics; D001216:Asparagine / Q000235:genetics*; D005260:Female; D058851:GPI-Linked Proteins; D005787:Gene Frequency / Q000235:genetics*; D005828:Genetics, Population / Q000379:methods; D005998:Glycine / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D014633:Valine / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D058851:GPI-Linked Proteins; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D008565:Membrane Proteins; D007532:Isoleucine; D001216:Asparagine; D014633:Valine; D005998:Glycine