1.Genetic identification and sequence analysis of three individuals of rare ABO variant Bw subgroup.
Jingsi CHEN ; Wenjing YUAN ; Bingbing HE ; Suiyong ZHU ; Jiajin LIN
Chinese Journal of Medical Genetics 2022;39(9):1021-1024
OBJECTIVE:
To identify and analysis three ABO variant Bw subtypes.
METHODS:
Serological assays were carried out to identify the ABO blood group of the proband. ABO gene was identified by Sanger sequencing.
RESULTS:
The genotype of three individuals are ABO*Bw.11/0.01.02, ABO*Bw.12/0.01.01, ABO*Bw.34/A1.02, receptively. Sequencing results showed that there were c.695T>C, c.278C>T, c.889G>A, resulting in variants in Leu232Pro, Pro93Leu and Glu297Lys, receptively.
CONCLUSION
Bw11, Bw12 and Bw34 subgroups were identified, and gene testing can be used as a supplement to determine the ABO blood group subtypes.
ABO Blood-Group System/genetics*
;
Alleles
;
Blood Grouping and Crossmatching
;
Exons
;
Genotype
;
Humans
;
Phenotype
;
Sequence Analysis
Result Analysis
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