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《Chinese Journal of Blood Transfusion》 2014-06
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Analyze the phenotype and genotype of 5 samples of B_w03,Qingdao,China

LIU Xiaohua;HAN Bin;QIAO Xiansen;JIAO Shuxian;FENG Zhuihui;Institute of Blood Transfusion,Qingdao Blood Center;Department of Transfusion,Qingdao Central Hospital;  
Objective To analyze the phenotype and genotype of 4 samples with ABO blood grouping discrepancies and a sample with inconsistencies of phenotype and genotypes. Methods Samples were detected with serologic and genetic methods. Phenotype was detected with traditional serological method,and then PCR-SSP was carried out to identify the genotypes of those samples. The sequence analysis of exons 6 and 7 of ABO gene was performed by sequence-based testing( SBT),and cloning sequencing. Results The phenotype and genotype of 4 samples with ABO blood grouping discrepancies were identified as B subtype,The genotype of a sample which phenotype was normal B type was detected to be B subtype too. A single-base mutation of 5 samples from C to T was found at the position of 721 in exon 7 comparing with B101 by direct sequencing and cloning sequencing. So the genotype of those samples were defined as Bw0301 finally. Conclusion The nucleotide of those samples altered from C to T at position of 721 in exon 7 and hence resulted in an amino acid change from Arg to Trp at position of 241,which was expected to diminish the enzyme's activity. The genotype of those samples were defined as Bw0301 finally. It indicates that the alteration of amino acid at the position of 232 is critical to the activity of glycosyltransferases.
【Fund】: 青岛市市南区科技发展资金项目(2013-13-013-YY)
【CateGory Index】: R457.1
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