RESUMO
The new HLA-A*02:395N allele differs from A*02:01:01 at one nucleotide position in the exon 2.
Assuntos
Alelos , Códon de Terminação/genética , Antígeno HLA-A2/genética , Códon sem Sentido/genética , República Tcheca , Bases de Dados Genéticas , Éxons/genética , Feminino , Teste de Histocompatibilidade , Humanos , Polimorfismo de Nucleotídeo Único , Doadores de TecidosRESUMO
Human leucocyte antigen (HLA) modifications observed in blast cells in haematologic malignancies can play an important role in disease progression and its therapy. Here we describe an insertion/deletion mutation in the second exon of HLA-B*39:01 that occurred in the blast cells of a patient with B-ALL. This mutation was not present in the nonleukemic cells, in which HLA-B*39:01 was normally expressed.
Assuntos
Antígenos HLA-B/genética , Mutação/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Células Sanguíneas/patologia , Éxons , Feminino , Humanos , Pessoa de Meia-Idade , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologiaRESUMO
Despite the independent segregation of genes encoding killer immunoglobulin-like receptor (KIR) and human leukocyte antigen (HLA), there is some evidence of some kind of co-evolution. Therefore, one could expect reduced KIR diversity within the HLA restricted population. A total of 41 unrelated individuals homozygous for ancestral HLA haplotype AH8.1 (HLA-A*0101-Cw*0701-B*0801-DRB1*0301-DQB1*0201) were genotyped for KIRs. Over all, 14 different genotypes were identified. The KIR genes and genotypes repertoire generally mirror the published frequencies in Caucasians. Except for KIR2DS4, all activating genes presented frequencies below 50%. KIR2DS5 was the least frequent among activating genes (17%), whereas KIR2DL5 (37%) among inhibitory ones. The most frequent (39%) was AA genotype. Twenty-two individuals (54%) had a copy of KIR haplotypes A and B (AB genotype), whereas three (7%) were homozygous for B (BB genotype). Nine of fourteen reported genotypes occurred only in one individual. Five genotypes were reported in less than twenty individuals worldwide and one genotype was reported so far only once. Conversely, the three most frequent genotypes account for 68% of all detected genotypes. The results show the unrestricted KIR diversity in this HLA uniform group and support the fact that the driving force for KIR evolution is not exclusively a major histocompatibility complex.
Assuntos
Antígenos HLA/genética , Haplótipos/genética , Grupos Populacionais/genética , Receptores KIR/genética , DNA/análise , DNA/genética , Frequência do Gene , Genótipo , Homozigoto , Humanos , Reação em Cadeia da PolimeraseRESUMO
Identification of a novel HLA-DRB1*1458 allele within a Caucasian individual using sequence-based typing.