[Genetic identification and sequence analysis of three individuals of rare ABO variant Bw subgroup].

Jingsi Chen,Wenjing Yuan, Bingbing He,Suiyong Zhu,Jiajin Lin

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2022）

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摘要

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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关键词

ABO variant,Bw subgroup,Gene sequencing

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