Analysis of a Chinese pedigree with Bw subtype due to a novel variant of α-1, 3 galactose aminotransferase gene
10.3760/cma.j.cn511374-20230605-00338
- VernacularTitle:α-1，3半乳糖胺基转移酶基因变异致B w亚型一个家系的遗传学分析
- Author:
Wen WU
1
;
Xinping ZHANG
;
Chao LIU
;
Xiangyan HUANG
Author Information
1. 解放军联勤保障部队第九六〇医院输血医学科，济南 250031
- Keywords:
ABO blood group;
Genetic variant;
ABO glycosyltransferase
- From:
Chinese Journal of Medical Genetics
2024;41(7):858-861
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the serological characteristics and genetic variant in a Chinese pedigree with Bw subtype.Methods:A 32-year-old female proband who had undergone prenatal examination on December 10, 2020 at the 960th Hospital of the PLA Joint Logistics Support Force and five members from her pedigree were selected as the study subjects. Peripheral blood samples were collected and subjected to ABO blood group phenotyping with serological methods and ABO blood group genotyping with fluorescent PCR. Genetic testing and haplotype analysis were carried out by direct sequencing of the entire coding region of the ABO gene in the proband and cloned sequencing of exons 1-7. Results:The blood type serology of the proband showed Bw, and the ABO blood type genotype determined by fluorescence PCR was B/O. The direct sequencing results showed that the proband had matched the ABO* O. 01. 01/ ABO* B. 01 genotype and carried a c. 1A>G variant. Cloned sequencing has confirmed the c. 1A>G variant to have occurred in the ABO* B. 01 allele. Family analysis revealed that the mother of the proband had an O blood type, her husband had a B phenotype, and the her three children had a normal B blood type. DNA sequencing showed that the two sons of the proband had a genotype of ABO* B. 01 and c. 1A>G/ ABO* B. 01. The daughter of the proband was ABO* O. 01. 01/ ABO* B. 01, whilst her mother was ABO* O. 01. 01/ ABO * O. 01. 02. The novel c. 1A>G variant sequence has been registered with the database with a number of MZ076785 1. Conclusion:The novel c. 1A>G variant of exon 1 of α- 1, 3 galactose aminotransferase gene probably underlay the reduced expression of B antigen in this pedigree.
