Study on a 905A to G mutation of α 1,3 galactosyltransferase gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 82-84, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-254503
ABSTRACT
<p><b>OBJECTIVE</b>To study the effect of 905A to G mutation of α -1,3 galactosyltransferase of ABO gene on B antigen expression.</p><p><b>METHODS</b>Three samples were diagnosed as B subgroup by serological test. Genotyping and sequencing were performed with polymerase chain reaction-sequence specific primer (PCR-SSP), direct sequencing and gene dones of exons 6 and 7 of the ABO locus.</p><p><b>RESULTS</b>The sequence of B allele has differed from that of regular B101 allele with a 905A to G missense mutation in exon 7, which resulted in an amino acid substitution (D302G) in all of the three B subgroup samples.</p><p><b>CONCLUSION</b>905A to G mutation can reduce the expression of B antigen.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sistema ABO de Grupos Sanguíneos
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Substituição de Aminoácidos
/
Mutação de Sentido Incorreto
/
Alelos
/
Galactosiltransferases
/
Genética
/
Genótipo
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2014
Tipo de documento:
Artigo
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