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Published on: March 29, 2017
[Identification of B Antigen Weak Expression Caused by 5873CT Mutation in Blood Group Gene Based on Sequencing
Xiao-Min Fang1, Wei Liu1, Bin Yang2
1Department of Experimental Medicine(Department of Laboratory, Department of Blood Transfusion), The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai 519000, Guangdong Province, China.
Objective:
To explore the role and significance of blood group genotyping and gene sequencing technology in the identification of blood group subtypes.
Methods:
Blood type of the proband and his son were identified by blood type serology, and ABO genotyping and DNA sequencing were performed according to the results of serological expression pattern.
Results:
The weak B antigen expression was found in the proband and his son by serological test, and was preliminarily identified as B3 subtype. The ABO blood group genotyping confirmed that the genotype of the proband and his son was B/O1 and B/O2, respectively. Finally, through gene sequencing, it was confirmed that the B101 allele of the proband and his son showed a heterozygous mutation of 5873CT.
Conclusion:
The combination of serology, genotyping and sequencing showed find new blood group gene mutation sites, which is important strategic significance for accurate blood group identification, personalized blood use and trasfusion safety, which is beneficial to clarify the molecular biological basis of ABO blood group subtypes.
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