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Linkage disequilibrium between S65C HFE mutation and HLA A29-B44 haplotype in Terceira Island, Azores.
Hum Immunol. 2003 Jun; 64(6):625-8.HI

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+Show Affiliations

Serviço de Imunogenética, Hospital de Santo Espírito de Angra do Heroísmo, Azores, Portugal.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

12770794

Citation

Couto, Ana Rita, et al. "Linkage Disequilibrium Between S65C HFE Mutation and HLA A29-B44 Haplotype in Terceira Island, Azores." Human Immunology, vol. 64, no. 6, 2003, pp. 625-8.
Couto AR, Peixoto MJ, Garrett F, et al. Linkage disequilibrium between S65C HFE mutation and HLA A29-B44 haplotype in Terceira Island, Azores. Hum Immunol. 2003;64(6):625-8.
Couto, A. R., Peixoto, M. J., Garrett, F., Laranjeira, F., Cipriano, T., & Armas, J. B. (2003). Linkage disequilibrium between S65C HFE mutation and HLA A29-B44 haplotype in Terceira Island, Azores. Human Immunology, 64(6), 625-8.
Couto AR, et al. Linkage Disequilibrium Between S65C HFE Mutation and HLA A29-B44 Haplotype in Terceira Island, Azores. Hum Immunol. 2003;64(6):625-8. PubMed PMID: 12770794.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Linkage disequilibrium between S65C HFE mutation and HLA A29-B44 haplotype in Terceira Island, Azores. AU - Couto,Ana Rita, AU - Peixoto,Maria José, AU - Garrett,Francisco, AU - Laranjeira,Francisco, AU - Cipriano,Tania, AU - Armas,Jácome Bruges, PY - 2003/5/29/pubmed PY - 2004/2/12/medline PY - 2003/5/29/entrez SP - 625 EP - 8 JF - Human immunology JO - Hum Immunol VL - 64 IS - 6 N2 - 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. SN - 0198-8859 UR - https://www.unboundmedicine.com/medline/citation/12770794/Linkage_disequilibrium_between_S65C_HFE_mutation_and_HLA_A29_B44_haplotype_in_Terceira_Island_Azores_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0198885903000521 DB - PRIME DP - Unbound Medicine ER -