RESUMO
A new HLA-B39 allele, B*3923, was found in the Japanese population. Compared with B*39022, the new allele had a single point mutation at position 503 in exon 3 with an amino acid substitution, Gln144Arg. To determine B39 allele frequency in Japanese, 275 B39-positive samples from 3277 Japanese individuals were examined by polymerase chain reaction using microtitre plate hydribization (PCR-MPH) and single-strand conformation polymorphism (PCR-SSCP). The frequency of B*3923 was estimated to be 0.4% in B39 alleles of the Japanese population. B*3923 was found in samples from four Japanese individuals, all of whom have DRB1*1406.
Assuntos
Antígenos HLA-B/genética , Mutação Puntual , Povo Asiático/genética , Frequência do Gene , Antígeno HLA-B39 , Haplótipos , Humanos , Japão , Dados de Sequência Molecular , Sondas de Oligonucleotídeos , Polimorfismo Conformacional de Fita SimplesRESUMO
The B*4602 was identified in a healthy Japanese donor. The B46 variant antigen differed serologically from B46. The nucleotide sequence of B*4602 differed from that of B*4601 by a single base (from A to G) at position 293 in exon 2. The substitution changed the amino acid Asp at position 74 to Gly. The gene frequency of B*4602 in the Japanese population is extremely low. The presumed haplotype of B*4602 was HLA-A2-Cw1-B*4602-DRB1*09. This is the first report of polymorphism of the B46 antigen.
