title: [A A311 blood group gene subtype caused by a-1-3-N-acetylgalactosaminyltransferase gene exon 7 mutations].
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.
authors.affiliation: Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China. E-mail: lyc60@126.com.
authors.forename: Yan-Chun
authors.initials: YC
authors.lastname: Liu
authors.affiliation: Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Tianjin Super Biotechnology Developing Co., Ltd, Tianjin 300384, China.
authors.forename: Wei-Jun
authors.initials: WJ
authors.lastname: Zhao
authors.affiliation: Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China.
authors.forename: Liang
authors.initials: L
authors.lastname: Ma
authors.affiliation: Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China.
authors.forename: Min
authors.initials: M
authors.lastname: Xue
authors.affiliation: Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China.
authors.forename: Min-Hui
authors.initials: MH
authors.lastname: Wu
authors.affiliation: Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China. E-mail: jscdcsjvip@vip.sina.com.
authors.forename: Jun
authors.initials: J
authors.lastname: Sun
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics* / Q000276:immunology; D001788:Blood Grouping and Crossmatching; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D009154:Mutation; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D000017:ABO Blood-Group System; D017350:N-Acetylgalactosaminyltransferases