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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.

We report herein the identification of a new HLA-Cw*07 allele in two members of a German Caucasian family. This novel allele, designated as Cw*0714, differs from Cw*07011 and Cw*0706 by two nucleotide changes: one at codon 66 (AAC-->AAG) in the exon 2, leading to an amino acid change from Asn to Lys; and another silent substitution at codon 99 (TAT-->TAC) in the exon 3. The latest substitution (T-->C at the third position of codon 99) was not seen in any of the HLA-Cw*07 alleles reported so far, thus being characteristic to the new HLA-Cw*0714 allele.

We report herein the identification of a new DRB1 allele using sequence-based typing. The new allele, DRB1*0106, was detected during routine HLA typing of a patient undergoing bone marrow transplantation. DRB1*0106 is identical to DRB1*0101 except for two codons, 71 (AGG-->GCG) and 86 (GGT-->GTG), changing the encoded arginine to alanine and glycine to valine. Both sequences were confirmed by polymerase chain reaction with sequence-specific primers (PCR-SSP). The polymorphism at codon 71 has not been, until now, identified in DRB1*01 alleles, although it is present in all the DRB1*15 alleles as well as DRB1*1309 and DRB1*1424.

We report the identification of a new DRB1* allele in a Spanish Caucasoid family during a search for a histocompatible bone marrow donor. This novel allele, designated as DRB1*1145, differs from DRB1*1123 in one nucleotide at position 199 in exon 2 (A replacing T), leading to one amino acid change from phenylalanine (Phe) to isoleucine (Ile) at codon 67. The propositus's father had identical class II alleles but showed a minor mismatch at locus B (B*4403 by B*4402) and a C-locus mismatch (Cw*1502 by Cw*0501). We discuss the criteria of selecting a non-related bone marrow donor with a minor mismatch on the DRB1* allele or the related father having a minor mismatch at B locus and a C-locus mismatch.

We report herein the identification of a new HLA-B*51 allele in a Spanish Caucasoid organ donor. The novel allele, designated B*5130, differs from B*51011 by one nucleotide change at position 787 (A to G) in exon 4, leading to an amino acid change from Arg (AGA) to Gly (GGA) at codon 239 in the alpha3 domain. This substitution is present in most classical and nonclassical HLA class I loci (A, C, E, and G) but not in any of the HLA-B alleles reported so far, except for B*7301. Although the frequency of the new variant seems to be low, its existence makes mandatory the analysis of exon 4 before assigning a B*5101 type.