Molecular characterization of HLA class II genes in celiac disease patients of Latin American Caucasian origin.
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.
Herrera
M
M
Laboratorio de Inmunogenética, Hospital de Clínicas, Buenos Aires, Argentina.
Theiler
G
G
Augustovski
F
F
Chertkoff
L
L
Fainboim
L
L
DeRosa
S
S
Cowan
E P
EP
Satz
M L
ML
D000483:Alleles; D000595:Amino Acid Sequence; D001118:Argentina / Q000208:ethnology; D002446:Celiac Disease / Q000208:ethnology / Q000235:genetics* / Q000276:immunology*; D002648:Child; D004247:DNA / Q000032:analysis / Q000235:genetics; D005091:Exons; D006683:HLA-DQ Antigens / Q000235:genetics; D015805:HLA-DR5 Antigen / Q000235:genetics; D006579:Heterozygote; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D044465:White People / Q000235:genetics*
D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; D015805:HLA-DR5 Antigen; D000949:Histocompatibility Antigens Class II; D004247:DNA