Методом аллельспецифического секвенирования у российской больной хроническим миелолейкозом (ХМЛ) обнаружен новый аллель HLA-C*12:138. Новый аллель отличается от стринга аллелей C*12:03:01G несинонимичной заменой в кодоне 18 (GGA>GTA), приводящей к замене глицина на валин в позиции 18 пептидсвязывающей бороздки. Показано, что аллель является наследуемым, а не возникшим в результате мутации при ХМЛ.A new allele HLA-C*12:138is detected in a Russian female patient with chronic myeloid leukemia. The new allele differs from C*12:03:01G alleles by nonsynonymous replacement in codone 18(GGA>GTA), leading to replacement of glycine for valine in position 18 of the peptide-binding sulcus. The allele is inherited, but not emerged as a result of mutation in CML.
High resolution HLA typing of 70 blood specimens by haplotype-specific sequencing in cases with indications for transplantation of allogenic hemopoietic stem cells (allo-THSc) from unrelated donors showed that haplotype-specific sequencing allowed high resolution HLA typing in accordance with modern requirements to unrelated THSC, that is, with resolution of all ambiguities in class I HLA gene exons 2 and 3 and class II HLA gene exon 2, which could be associated with amino acid residue replacement in the domains forming the peptide-binding sulcus in HLA molecules. Heterozygotic cases within the same HLA specificity, when HLA haplotypes in heterozygotes could not be separated at the beginning of the procedure, were the exclusions. In these cases haplotype-specific sequencing had to be supplemented by another HLA typing method, for example, PCR-SSP. Selecting an unrelated donor one should bear in mind that the patient and the potential donor might not coincide by HLA-C gene alleles even when they coincided with high resolution by HLA-A*/B*/ DRB1*/DQB1*genes. The cohorts of HLA-A*/B*/C*/DRB1*/DQB1*-typed donors in bone marrow donor registers should be extended.