C721T mutation of the alpha 1,3 galactosyltransferase gene responsible for Bw subgroup / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 138-141, 2005.
Artigo
em Chinês
| WPRIM
| ID: wpr-321140
ABSTRACT
<p><b>OBJECTIVE</b>To gain an insight into the molecular genetic basis of Bw subgroup of ABO blood group system.</p><p><b>METHODS</b>Three Bw phenotypes were confirmed by standard serological techniques. The enhancer, promoter and exons 1-7 including flanking introns of ABO gene were amplified and directly sequenced after PCR amplified fragments being purified by gel. Exons 6 and 7 were also sequenced after pcDNA3.1 (-) vector transformation. The sequence specific primer-polymerase chain reaction was performed to confirm the mutations detected by sequencing in this study.</p><p><b>RESULTS</b>Genotypes of three individuals were Bw/O by direct sequencing, there were G deletion heterozygous at position 261 and C/T heterozygous at position 721. A normal O allele was confirmed by cloning sequencing and 721 C>T mutation of the alpha 1, 3 galactosyltransferase (B allele) gene was also observed, which caused amino acid 241 Arg>Trp substitution. This mutation was not detected in 140 random samples by PCR-SSP.</p><p><b>CONCLUSION</b>The mutation of 721C>T in the alpha 1, 3 galactosyltransferase gene may be one of the molecular genetic bases of Bw phenotype.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sistema ABO de Grupos Sanguíneos
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Íntrons
/
Reação em Cadeia da Polimerase
/
Éxons
/
Mutação Puntual
/
Alelos
/
Galactosiltransferases
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2005
Tipo de documento:
Artigo
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