Genetic identification and sequence analysis of three individuals of rare ABO variant Bw subgroup.
10.3760/cma.j.cn511374-20210824-00691
- VernacularTitle:三例罕见ABO变异型Bw亚型的基因鉴定及序列分析
- Author:
Jingsi CHEN
1
;
Wenjing YUAN
;
Bingbing HE
;
Suiyong ZHU
;
Jiajin LIN
Author Information
1. The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China. ljj88879099@126.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System/genetics*;
Alleles;
Blood Grouping and Crossmatching;
Exons;
Genotype;
Humans;
Phenotype;
Sequence Analysis
- From:
Chinese Journal of Medical Genetics
2022;39(9):1021-1024
- CountryChina
- Language:Chinese
-
Abstract:
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.
