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《Chinese Journal of Blood Transfusion》 2018-03
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Double-stranded DNA mutations of the alpha (1,2) fucosyltransferase gene in the formation of para-Bombay phenotype

LI Xinghua;LIU Yanchun;WANG Enbo;MA Ling;SHI Lili;SHAO Lei;The Frist Peoples Hospital of Lianyungang;Jiangsu Province Blood Center;  
Objective Serotype of a sample initially classified as para-Bombay OhAB-s was genotyped to understand the relationship between the phenotype and genes. Methods Serology、blood type substance detection、blood type enzyme activity tests were conducted by the tube method; Genetic analysis was done with DNA sequencing along witha family genetic survey. Results This particular case was a type with H antigen secretion loss,which is consistent with the Le( a-b+) phenotype; ABO glycosyl transferase activity tests confirmed the subjects capability of synthesizing both A and B antigens; the two DNA strands of the sample presented a base mutation leading to the deletion of H antigen on red blood cells; Family survey results show that A,B antigens were hereditary from his parents. Conclusion It is very rare that a para-Bombay AB with H antigen deletion was caused by different mutation sites of the FUT1 gene on two DNA strands; the A and B antigens on the red blood cells are formed by secretion adsorption by the H antigen.
【CateGory Index】: R440
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