A A311 blood group gene subtype caused by a-1-3-N-acetylgalactosaminyltransferase gene exon 7 mutations.
10.7534/j.issn.1009-2137.2014.03.046
- Author:
Yan-Chun LIU
1
;
Yi LIU
2
;
Wei-Jun ZHAO
3
;
Ling ZHANG
2
;
Liang MA
2
;
Min XUE
2
;
Min-Hui WU
2
;
Jun SUN
4
Author Information
1. Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China. E-mail: lyc60@126.com.
2. Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China.
3. Tianjin Super Biotechnology Developing Co., Ltd, Tianjin 300384, China.
4. Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China. E-mail: jscdcsjvip@vip.sina.com.
- Publication Type:Case Reports
- MeSH:
ABO Blood-Group System;
genetics;
immunology;
Blood Grouping and Crossmatching;
Exons;
Female;
Genotype;
Humans;
Mutation;
N-Acetylgalactosaminyltransferases;
genetics;
Phenotype;
Polymorphism, Single Nucleotide;
Young Adult
- From:
Journal of Experimental Hematology
2014;22(3):821-824
- CountryChina
- Language:Chinese
-
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.
