title: Linkage disequilibrium between S65C HFE mutation and HLA A29-B44 haplotype in Terceira Island, Azores.
abstract: Our objective was to investigate the frequency of HFE gene mutations and to study linkage disequilibrium (LD) between HLA-Class I alleles and these mutations in the population of Terceira Island, Azores, Portugal. A total of 218 unrelated individuals were investigated. Three HFE mutations--C282Y, H63D, and S65C--were identified by restriction endonuclease digestion of polymerase chain reaction (PCR)-amplified genomic DNA. HLA-Class I alleles were typed by PCR-single-strand polymorphism. Gene frequencies and LD were estimated using Arlequin V 1.1. Six genotypes were found in the population: WT/WT (58.3%), H63D/WT (31.2%), H63D/H63D (2.3%), H63D/C282Y (0.9%), S65C/WT (4.1%), and C282Y/WT (3.2%). No cases of C282Y or S65C homozygosity were identified. HLA haplotype A3-B7 was in LD with C282Y; HLA alleles A29, B44, and HLA haplotype A29-B44 were in LD with S65C mutation. HFE gene frequencies in this population are similar to those in other European populations; HFE S65C mutation was found in LD with the alleles A29, B44, and with A29-B44 HLA haplotype.
authors.affiliation: Serviço de Imunogenética, Hospital de Santo Espírito de Angra do Heroísmo, Azores, Portugal.
authors.forename: Ana Rita
authors.initials: AR
authors.lastname: Couto
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Peixoto
authors.forename: Francisco
authors.initials: F
authors.lastname: Garrett
authors.forename: Francisco
authors.initials: F
authors.lastname: Laranjeira
authors.forename: Tania
authors.initials: T
authors.lastname: Cipriano
authors.forename: Jácome Bruges
authors.initials: JB
authors.lastname: Armas
mesh_terms: D001394:Azores; D015234:HLA-A Antigens / Q000235:genetics*; D006239:Haplotypes; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation
chemical_list: C103673:HFE protein, human; D015234:HLA-A Antigens; C035524:HLA-A29 antigen; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins