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Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2014 Jun;22(3):821-4. doi: 10.7534/j.issn.1009-2137.2014.03.046.

[A A311 blood group gene subtype caused by a-1-3-N-acetylgalactosaminyltransferase gene exon 7 mutations].

[Article in Chinese]

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.

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.

PMID:
24989302
[Indexed for MEDLINE]
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