A A311 blood group gene subtype caused by a-1-3-N-acetylgalactosaminyltransferase gene exon 7 mutations / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 821-824, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-302392
ABSTRACT
This study was purposed to analyses the serological and molecular basis of one sample of A blood group which has anti-A. The tube method was used to detect the blood group phenotype, the genotype was amplified by PCR-SSP. The sequence of a-1-3-N-acetylgalactosaminyltransferase gene of blood group was determined by Sanger method. The results showed that serological results of blood group were discrepant. It was determined as A subtype firstly. The result of PCR-SSP showed the existence of O and A blood group gene. The sequencing result of the 6th exon of ABO gene showed the existence of c.261delG, which refers to the O gene. The specific amplification sequencing analysis was carried out on the 7th exon of the O and A blood group gene. Two mutations in the 7th exon of the A gene haplotype, c.467 C > T and c.626 G > A, four mutations in the 7th exon of the O gene haplotype, c.646T > A, 681G > A, 771C > T, 829G > A had been detected. It is concluded that a novel allelic mutation c.626 G > A in the 7th exon of A gene is explored. The Genbank access number of this novel mutation is KC690281. c.467 C > T is SNP. The combination of two allele mutation of A gene is named as a new allelic subtype A311.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Sistema ABO de Grupos Sanguíneos
/
Tipagem e Reações Cruzadas Sanguíneas
/
Éxons
/
N-Acetilgalactosaminiltransferases
/
Polimorfismo de Nucleotídeo Único
/
Alergia e Imunologia
/
Genética
/
Genótipo
/
Mutação
Limite:
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Journal of Experimental Hematology
Ano de publicação:
2014
Tipo de documento:
Artigo
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