RESUMO
Four new HLA classical class I alleles in the three loci are described in Caucasian individuals. A*3012 was first suspected by an abnormal serologic pattern that would be explained by the single amino acid substitution at the A30-specific Ser17. B*270505 differs from B*270502 in a silent substitution at an up to now constant position in the B locus. B*3541 encodes for a new Cys at position 118 that has not been encountered in neither human nor primate alleles. Cw*0716 seems to be originated by a large-scale interallelic recombination event between Cw*0701/*0706/*0718 and Cw*020202, giving rise to a new antigen-binding cleft conformation.
Assuntos
Genes MHC Classe I/genética , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Antígenos HLA-C/genética , Antígenos de Histocompatibilidade Classe I/genética , Alelos , Sequência de Aminoácidos , Sequência de Bases , Cisteína/genética , Heterozigoto , Teste de Histocompatibilidade , Humanos , Íntrons , Dados de Sequência Molecular , Mutação , Polimorfismo Genético , Recombinação Genética , População BrancaRESUMO
The case of a male infant who was found to have hyperferritinemia was made at the age of 3 months is described. The patient and several members of his family from three generations were diagnosed with hereditary hyperferritinemia-cataract syndrome with a new point mutation in the iron-responsive element of the L-ferritin gene. Differential diagnosis of hyperferritinemia is discussed with emphasis on the need for the knowledge of this entity to avoid unnecessary investigations.
Assuntos
Catarata/congênito , Ferritinas/sangue , Distúrbios do Metabolismo do Ferro/congênito , Catarata/genética , Humanos , Recém-Nascido , Distúrbios do Metabolismo do Ferro/genética , Masculino , Linhagem , SíndromeRESUMO
Se describe el caso de un lactante varón con hallazgo casual de hiperferritinemia a los 3 meses, a través del cual se llegó al diagnóstico en varios familiares de 3 generaciones de síndrome hereditario de hiperferritinemia y cataratas, con una nueva mutación puntual en el IRE del gen de la L-ferritina. Se comenta el diagnóstico diferencial de las hiperferritinemias, haciendo hincapié en el conocimiento de esta entidad para evitar exploraciones innecesarias (AU)
