Asunto(s)

Neuromielitis Óptica , Diagnóstico Diferencial , Humanos , Inmunosupresores/uso terapéutico , Neuromielitis Óptica/diagnóstico , Neuromielitis Óptica/epidemiología , Neuromielitis Óptica/genética , Neuromielitis Óptica/terapia , Pronóstico

RESUMEN

HLA-DRB1 molecules contain extensive polymorphism localized to specific functional regions of the antigen binding site (ABS). Position 86 of HLA-DRB1 molecules modulates a hydrophobic pocket in the ABS which acts as a peptide anchoring site [1]. We report the nucleotide sequence of HLA-DRB1*1316 which is identical to HLA-DRB1*1301 and *1302 except at codon 86. The novel allele encodes aspartate rather than valine or glycine at position 86. Val86 and Gly86 have been exclusively observed in thousands of oligotyped specimens; thus Asp86 is a rare polymorphism which is significant with respect to hypotheses concerning evolution and structure-function relationships of HLA-DRB1 molecules.

Asunto(s)

Codón/inmunología , Evolución Molecular , Antígenos HLA-DR/genética , Antígenos HLA-DR/fisiología , Polimorfismo Genético/inmunología , Alelos , Animales , Ácido Aspártico/genética , Secuencia de Bases , Glicina/genética , Antígenos HLA-DR/aislamiento & purificación , Cadenas HLA-DRB1 , Humanos , Modelos Moleculares , Datos de Secuencia Molecular , Primates , Valina/genética