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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
ABO Blood-Group System
/
Blood Grouping and Crossmatching
/
Exons
/
N-Acetylgalactosaminyltransferases
/
Polymorphism, Single Nucleotide
/
Allergy and Immunology
/
Genetics
/
Genotype
/
Mutation
Limits:
Female
/
Humans
Language:
Chinese
Journal:
Journal of Experimental Hematology
Year:
2014
Type:
Article
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