Discovery and sequence analysis of a novel allele of A subtype

VernacularTitle:一个A亚型常见型等位基因的发现和序列分析
Author: Li LIU ¹ ; Xiansen QIAO ; Zhihui FENG
Author Information

1. 青岛市中心血站输血医学研究所，山东　266071
Keywords: A subtype; Blood group serology; DNA sequencing; Frameshift mutation
From: Chinese Journal of Medical Genetics 2022;39(7):780-782
CountryChina
Language:Chinese
Abstract: Objective:To identify the genotypes of two probands with ambiguous blood serological typing and explore their serological feature and molecular basis.Methods:Serology assays including absorption-elution test were carried out. With genomic DNA extracted from peripheral blood samples, exons 6 and 7 of the ABO gene were subjected to cloning and haplotype sequencing analyses. Results:Red blood cells from the probands showed no agglutination with monoclonal anti-A and anti-B, whilst their serum showed weak agglutination with A1 cells and moderate agglutination with B cells. Absorption-elution test failed in detecting A antigen on such cells. Direct cloning sequencing analysis indicated that they were heterozygous for an ABO*O01.01 allele and a novel A allele. The novel A allele contained c. 467C>T (p.Pro156Leu) and insertion of a nucleotide C at position 963_964 in exon 7 (c.963_964insC) compared with ABO*A1.01. Conclusion:Through serological and sequencing analysis, the two samples were identified as A subgroup due to novel A alleles.