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Updated: Aug 29, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Genetic identification and sequence analysis of three individuals of rare ABO variant Bw subgroup]
Jingsi Chen1, Wenjing Yuan, Bingbing He
1The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China. ljj88879099@126.com.
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.
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