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Molecular characterization of HLA class II genes in celiac disease patients of Latin American caucasian origin

1994; Wiley; Volume: 43; Issue: 2 Linguagem: Inglês

10.1111/j.1399-0039.1994.tb02305.x

1399-0039

Mariana Herrera Piñero, Graciela Theiler, Federico Augustovski, Lilien Chertkoff, Leonardo Fainboim, S Derosa, Elliot P. Cowan, M. Leonardo Satz,

Galectins and Cancer Biology

Abstract: In the present study, the polymorphic domain of HLA class II genes present in a pediatric population of Argentinian celiac disease patients was analyzed by hybridization to sequence‐specific oligonucleotides and DNA sequencing. Sixteen out of 16 DR5/7 heterozygous patients bore the DQA1*0501 and DQB1*0201 alleles implicated in the DQ2 risk specificity. The second exon of DQA1, DQB1 and DRB1 genes from 2 DR5/7 patients was characterized by DNA sequencing. The following alleles were found in both patients: DRB1*1101 and DRB1*0701; DQB1*0301 and DQB1*0201; DQA1*0501 and DQA1*0201. Previous serological analysis in this population had shown the presence of DQ2 in 95% of the patients (40% in controls) and a negative association with DQ1 haplotypes, suggesting the presence of other “permissive” or neutral alleles. The following HLA‐DQB1 alleles, besides DQB1*0201, were identified in 31 CD patients: DQB1*0301, 0302, 0401 and 0402. All these alleles share a common pattern of residues between positions 84 and 90, and distinct from that present in DQ1‐related alleles.