F. García‐Sánchez

Allelic and haplotypic HLA frequency distribution in Spanish hematopoietic patients. Implications for unrelated donor searching

Histocompatibility criteria for unrelated donor selection are based on high-resolution definition of HLA genes. In spite of the expansion of the unrelated donor registries, HLA matching remains a problem for many patients because of the great diversity of HLA alleles and haplotypes. The availability of matched donors at an allelic level depends on the frequency of the patients alleles and haplotypes. Therefore, data regarding HLA distribution for each population are needed in order to evaluate the donor searching approach and, may be, even the therapeutic strategy. In the present report, we have analyzed 253 haematological Spanish patients awaiting unrelated haematopoietic stem cell (HSC) donors. HLA allele and haplotype frequencies have been defined at high resolution for the first time in this population. Significant differences in HLA distribution have been reported when comparing two patient groups, one that received full-match (10/10) unrelated donors and one that did not. Factors like rare alleles, presence of B*510101 (because of the association with multiple HLA-C alleles), as well as infrequent B-C and DRB1-DQB1 associations, showed a negative value for finding a suitable donor, whereas the presence of one of the six-gene haplotypes with a frequency ≥ 0.9% in our sample was a positive factor influencing donor searching. These differences will be useful in donor searching advising and in the use of different therapeutic strategies.

The new HLA-C allele C*07:170 shows a new polymorphism at amino acid position 147

The new human leukocyte antigen (HLA)-C allele, Cw*0220, was identified in a Spanish Caucasian patient by sequence-based typing. HLA-Cw*0220 differs from Cw*020202 by a single amino acid replacement at constant position 169 (R > H).

HLA-A allele dropout in sequence-specific oligonucleotide probe typing due to intronic polymorphism in the novel A*31:01:02:02 allele

HLA-A*31:01:02:02 differs from A*31:01:02 in a single nucleotide mutation at intron 3, nucleotide position 1000 (G > A).

New HLA-A allele, A*0339, identified in a Spanish patient.

A novel human leukocyte antigen-A allele, officially named A*0339, was found in a patient when sequence-based typing was carried out for unrelated stem cell donor search. A*0339 differs from A*03010101 in a point mutation at codon 102 (GAC-->TAC), generating an exchange of amino acid from Asp to Tyr.

A new DQA1 allele (DQA1*0510) in a Spanish celiac disease patient

Human leukocyte antigen (HLA)-DQA1*0510 has been identified in a Spanish patient diagnosed with celiac disease. DQA1*0510 differs from DQA1*0505/09 by a point mutation at exon 2 producing an amino acid replacement at codon 77 (I>V).

New HLA polymorphism detection by molecular and serologic typing procedures. Complete coding region characterization of Cw*0525, Cw*0825, B*3950 and A*3219N alleles

Four new HLA class I alleles, Cw*0525, Cw*0825, B*3950 and A*3219N, have been characterized.

Description of two new HLA‐A alleles, HLA‐A*02:572 and HLA‐A*03:225

Characterization of two new human-leukocyte antigen (HLA)-A alleles, A*02:572 and HLA-A*03:225.Characterization of two new human‐leukocyte antigen (HLA)‐A alleles, A*02:572 and HLA‐A*03:225.

Sequencing of a new HLA-DRB1*16 allele (DRB1*1615) with valine at residue 86.

Human leukocyte antigen (HLA)-DRB1*1615 shows one amino acid replacement at codon 86 (G>V) regarding DRB1*160101.

HLA-B*4907 and B*490101 differs by residue 163 placed in a dominant serologic epitope.

Human leukocyte antigen (HLA)-B*4907 was detected in a family from Morocco because of inconsistencies found between molecular and serologic typing results. B*4907 differs from B*490101 by two nucleotide changes in codon 163, producing an amino acid replacement, L>E.

Sequencing of four new HLA-C alleles, Cw*070403, Cw*0757, Cw*1705, and Cw*0223.

Sequencing-based typing for unrelated hematopoietic stem cell transplantation studies rendered four new HLA-C alleles. HLA-Cw*0757, Cw*070403, and Cw*1705 differ by single point mutations from their most similar alleles, Cw*070105, Cw*070401, and Cw*1701, respectively. In contrast, Cw*0223 discloses five amino acid replacements at the alpha2 domain regarding Cw*020202.