ABSTRACT
Characterization of six novel HLA alleles by next-generation sequencing.
Subject(s)
HLA-A Antigens , High-Throughput Nucleotide Sequencing , Humans , Alleles , HLA-A Antigens/genetics , HLA-DRB1 Chains/geneticsABSTRACT
Three new HLA class I alleles were characterized by next generation sequencing.
Subject(s)
HLA-A Antigens , High-Throughput Nucleotide Sequencing , Alleles , HLA-A Antigens/genetics , HumansABSTRACT
A new HLA-B*39:168 was characterized in a Caucasian Spanish individual.
Subject(s)
Genes, MHC Class I , HLA-B Antigens , Alleles , HLA-B Antigens/genetics , Humans , White PeopleABSTRACT
Identification of four new HLA-DPB1 alleles, DPB1*02:01:57, *17:01:04, *1117:01, *1124:01.
Subject(s)
Alleles , Base Sequence , HLA-DP beta-Chains/genetics , HumansABSTRACT
The new B*40:462 allele was characterized in a Caucasian Spanish individual.
Subject(s)
Genes, MHC Class I , Recombination, Genetic , Alleles , HLA-B Antigens/genetics , Humans , White PeopleABSTRACT
Seven new HLA alleles were characterized by next generation sequencing in the Spanish population.
Subject(s)
HLA-A Antigens/genetics , HLA-A24 Antigen/genetics , HLA-C Antigens/genetics , HLA-DQ alpha-Chains/genetics , Alleles , Cohort Studies , Gene Frequency , Genetics, Population , Haplotypes , High-Throughput Nucleotide Sequencing , Humans , Polymorphism, Genetic , Spain/epidemiologyABSTRACT
In this report, we describe a case of somatic mutations in the two HLA-B genes in a patient with acute myelogenous leukemia. The HLA-B*15:01 allele showed an insertion of two nucleotides within exon 2 leading to a premature stop codon. HLA-B*40:01 showed one nucleotide substitution within exon 3, identical to that described for B*15:258N. The restriction of these mutations in leukemic cells was confirmed in patient's samples from buccal epithelial cells and hematopoietic cells obtained when the patient was in remission. The clinical significance of somatic HLA mutations in cancer seems to be associated with escape from immune surveillance and clonal evolution. The analysis of possible mutations in HLA genes of tumor cells would be valuable information for the outcome of the disease and stem cell donor selection.
Subject(s)
Codon, Nonsense , HLA-B Antigens/genetics , Leukemia, Myeloid, Acute/genetics , Alleles , Exons , Female , Gene Expression Profiling , Hematopoietic Stem Cells/metabolism , Humans , Karyotyping , Loss of Heterozygosity , Nuclear Proteins/genetics , Nucleophosmin , Uniparental Disomy , fms-Like Tyrosine Kinase 3/geneticsABSTRACT
Three new HLA alleles, HLA-C*05:203, -C*15:10:04 and DRB1*01:99, were characterized in the Spanish population.
Subject(s)
Alleles , Exons , HLA-C Antigens/genetics , Point Mutation , Humans , SpainABSTRACT
The new HLA allele HLA-C*05:199 was detected and characterized in a Spanish family.
Subject(s)
Alleles , Genetic Loci , HLA-C Antigens/genetics , Recombination, Genetic , Base Sequence , Exons/genetics , Genome, Human , Haplotypes/genetics , HumansABSTRACT
The new HLA alleles HLA-B*56:55:01:02, -C*03:374 and -DPB1*13:01:03 were characterized by NGS methodology.
