Serological and molecular biological analysis of Aw43 subtype: report of two cases
10.13303/j.cjbt.issn.1004-549x.2024.01.019
- VernacularTitle:2例Aw43亚型的血清学和分子生物学鉴定分析
- Author:
Yuli ZHU
1
;
Bin HAN
1
;
Zhihui FENG
1
Author Information
1. Institute of Transfusion Medicine, Qingdao Blood Center, Qiandao 266071, China
- Publication Type:Journal Article
- Keywords:
ABO ambiguous blood group;
Aw43;
transmembrane region
- From:
Chinese Journal of Blood Transfusion
2024;37(1):107-110
- CountryChina
- Language:Chinese
-
Abstract:
【Objective】 To conduct serological identification and molecular study of two patients with ABO ambiguous blood group. 【Methods】 The serological tests were conducted by the tube method. DNA direct sequencing was performed to analyze the exons and transcriptional regulatory regions of the ABO gene. TA clone sequencing was performed to confirm the mutation sites of the haploid. DeepTMHMM was used for transmembrane region prediction and analysis. 【Results】 Both samples showed weak agglutination with anti-A in forward typing and the presence of anti-A antibodies in reverse typing. ABO gene analysis confirmed 1A>G and 467C>T mutations of A101 gene, indicating the Aw43 allele.DeepTMHMM analysis showed that 1A>G mutation shift back the translation start site, which would affect the transmembrane structure seriously. 【Conclusion】 The two cases of ABO ambiguous blood group were with Aw43 alleles. The 1A>G mutation affected the transmembrane region and subsequently altered the glycoprotein structure, resulting in impaired enzyme function.
