RESUMO
We report the identification of two novel human leucocyte antigen (HLA) in two Caucasian individuals. HLA-A*0343 differs from A*03010101 by four changes at nucleotides 411-414 (CCGG-->TGAA) and by a point mutation at position 418 (G-->C). These differences lead to two amino acid substitutions at codon 114, where arginine has changed into negatively charged glutamic acid, and at codon 116, where aspartic acid has changed into positively charged histidine. Molecular modeling showed that these changes have a profound influence on the overall charge of the F pocket of the groove, resulting in potentially important changes in the peptide repertoire. HLA-A*0345 was found in a hematological female patient candidate to bone marrow transplantation. This new variant differs from HLA-A*03010101 at position 845 (C-->A) encoding an amino acid change of threonine to asparagine at codon 258 located in the alpha3 domain. Molecular modeling does not suggest a substantial role of this substitutions on the interaction with beta2-microglobulin or CD8.
Assuntos
Alelos , Simulação por Computador , Antígenos HLA-A/genética , Mutação/genética , Domínios e Motivos de Interação entre Proteínas/genética , Sequência de Bases , Transplante de Medula Óssea , Feminino , Antígenos HLA-A/isolamento & purificação , Antígeno HLA-A3 , Teste de Histocompatibilidade , Humanos , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Análise de Sequência de DNA , Homologia de Sequência do Ácido NucleicoRESUMO
We describe the isolation and characterization of a novel HLA-A null allele, officially named A*0127N. The A*0127N exon 2, 3, and 4 nucleotide sequence is identical to that of A*010101 except at position 553, where a G is substituted by a T, resulting in a coding change in exon 3 (GAG>TAG) from Glu to the stop codon AMB. The mutation described is responsible for the premature ending of the translation.
Assuntos
Antígenos HLA-A/genética , Alelos , Sequência de Bases , Éxons/genética , Humanos , Dados de Sequência MolecularRESUMO
Genotype and allele frequencies for STR loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 were investigated in 289 unrelated Italian Caucasian individuals from the North and South regions. After co-amplification by polymerase chain reaction, automatic DNA profiling of these nine STR loci was performed by ABI PRISM((R)) 310 DNA Genetic Analyzer. For each locus, statistical parameters for forensic and paternity purposes were then calculated; the combined power of discrimination and the combined power of exclusion of all nine loci were 0.9999999999917 and 0.99992 for the Northern population and 0.9999999999921 and 0.99991 for the Southern population.
Assuntos
Frequência do Gene , Genética Populacional , Sequências de Repetição em Tandem , Impressões Digitais de DNA , Humanos , Itália , Reação em Cadeia da Polimerase , População Branca/genéticaRESUMO
We describe here the isolation and the full-length sequence of the coding region of the HLA new variant at the HLA-A locus officially named A*68020102. This variant shows an 11 base pairs deletion within the 5' UTR region. The exon sequence is identical to that of A*6802 and the commercially available anti-A68 typing sera react with the antigen coded by the allele A*68020102. This variant was originally identified in two unrelated Caucasoid families because of discrepant HLA typing results between serology, Sequence Specific Oligonucleotide Probe (SSOP), and SBT. In fact, the A68 assigned by serology was undetectable with the molecular techniques. This has occurred because the deletion present in A*68020102 prevents specific amplification of HLA-A locus by some commercially available typing kits.