RESUMO
The new alleles, HLA-B*40:125 and HLA-B*40:129, present a mismatch at codon 103.1 (G â C) and three mismatches at codons 9.1 (C â T), 11.1 (T â G) and 12.1 (G â A).
Assuntos
Antígenos HLA-B/genética , Alelos , Sequência de Bases , Transplante de Medula Óssea/etnologia , Transplante de Medula Óssea/imunologia , Brasil , Clonagem Molecular , Etnicidade , Éxons , Feminino , Loci Gênicos , Antígenos HLA-B/imunologia , Teste de Histocompatibilidade , Humanos , Masculino , Dados de Sequência Molecular , Nucleotídeos/química , Nucleotídeos/genética , Mutação Puntual , Reação em Cadeia da Polimerase , Polimorfismo Genético , Sistema de Registros , Análise de Sequência de DNARESUMO
Here we report the discovery of a novel HLA-B allele, named B*4212 in a Brazilian volunteer bone marrow donor. The new sequence has nucleotide variation at position 496 (TâG) as compared with B*4201. This variation results in a conservative amino acid substitution from valine to glycine at codon 165 of exon 3.
Assuntos
Antígenos HLA-B/genética , Alelos , Sequência de Aminoácidos , Substituição de Aminoácidos , Sequência de Bases , Medula Óssea , Brasil , Antígenos HLA-B/química , Antígenos HLA-B/imunologia , Teste de Histocompatibilidade , Humanos , Dados de Sequência Molecular , Mutação Puntual , Análise de Sequência de DNA , Doadores de TecidosRESUMO
We describe a new case of Say syndrome. This syndrome is an autosomal dominant condition characterized by cleft palate, short stature of prenatal onset, large protruding ears and microcephaly, delayed bone age, and renal anomalies. The first report was in 1975 by Say et al. in three generations of a family. Three additional reports of isolated cases were published. Our propositus is a 12-month-old boy with the cardinal signs of the syndrome whose mother has only microcephaly. To our knowledge this is the second familial report with evidence of highly variable expressivity. The occurrence of renal anomalies in a son of a normal sister of his mother suggests incomplete penetrance.