Identification of a new HLA-DRB1 allele (DRB1*0318) in three members of a Caucasian Spanish family

CGG) at position 45. This position of the beta1 domain shows very little polymorphism among DRB1* alleles (nucleotide changes at this position have only been reported for DRB1*1436 and DRB1*0105) and locates in the vicinity of the highly polymorphic position 47, which is a constituent of the groove's pocket interacting with the amino acid position 7 of the antigen peptide. The familial study showed that the new allele was maternally transmitted into the HLA-A*3002, -B*1801, -Cw*0501, -DRB1*0318, -DRB3*0202, -DQB1*0201 haplotype. Interestingly, the two siblings of the family, which were HLA identical and suffered of insulin-dependent diabetes mellitus (IDDM), were carriers of the two HLA haplotypes (DRB1*03/DQB1*0201 and DRB1*04/DQB1*0302) reported as susceptibility markers to IDDM in Caucasians. -->
ISSN: 0001-2815
DOI: 10.1034/j.1399-0039.2001.057005489.x
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=doi_________::63d139c61bc0b06e8dc3162c792eddaa
https://doi.org/10.1034/j.1399-0039.2001.057005489.x
Rights: CLOSED
Přírůstkové číslo: edsair.doi...........63d139c61bc0b06e8dc3162c792eddaa
Autor: V. Fabregat, I. Salinas, Jordi Vives, B. Suárez, M.T. Arias, Manuela Costa, Jaume Martorell, Francisco Lozano, A. Guardia, M.G. Ercilla
Rok vydání: 2001
Předmět:
Zdroj: Tissue Antigens. 57:489-491
ISSN: 0001-2815
DOI: 10.1034/j.1399-0039.2001.057005489.x
Popis: This communication reports the identification of a new allele HLA-DRB1*03 in three members of a Caucasian Spanish family. The new allele has been officially named HLA-DRB1*0318 by the World Health Organization Nomenclature Committee. The exon 2 sequence of this new allele is identical to that of DRB1*03011 except for the first nucleotide of codon 45. The nucleotide change (C replacing G) leads to the amino acid substitution of glycine to arginine (GGG-->CGG) at position 45. This position of the beta1 domain shows very little polymorphism among DRB1* alleles (nucleotide changes at this position have only been reported for DRB1*1436 and DRB1*0105) and locates in the vicinity of the highly polymorphic position 47, which is a constituent of the groove's pocket interacting with the amino acid position 7 of the antigen peptide. The familial study showed that the new allele was maternally transmitted into the HLA-A*3002, -B*1801, -Cw*0501, -DRB1*0318, -DRB3*0202, -DQB1*0201 haplotype. Interestingly, the two siblings of the family, which were HLA identical and suffered of insulin-dependent diabetes mellitus (IDDM), were carriers of the two HLA haplotypes (DRB1*03/DQB1*0201 and DRB1*04/DQB1*0302) reported as susceptibility markers to IDDM in Caucasians.
Databáze: OpenAIRE
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