Premium
A novel allele arising from c.912C>A mutation in the α‐1, 3‐N ‐acetylgalactosaminyltransferase gene in a Chinese individual
Author(s) -
Zhang Xu,
Li Xiaofeng,
Liu Ying,
Li Jianping
Publication year - 2021
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.16159
Subject(s) - genetics , exon , allele , biology , abo blood group system , gene , mutation , haplotype , phenotype , microbiology and biotechnology
Background The A m phenotype, which arises from mutations of the α‐1,3‐N‐acetylgalactosaminyltransferase gene, is rare in the Chinese population. The present study focuses on a novel mutation with the A m phenotype in a Chinese individual. Study design and methods The sample with ABO blood group discrepancy was analyzed by serologic techniques. The full coding and flanking regions of the ABO gene, including the Intron 1 transcription factor–binding site, were identified through direct sequencing of polymerase chain reaction (PCR)‐amplified products. PCR products of Exons 6 and 7 were validated to isolate the ABO gene haplotypes by cloning and sequencing individual colonies. The impact of the novel mutation on enzyme function was predicted with Polymorphism Phenotyping algorithm V2 and bioinformatic software programs. Results The serologic characteristics of ABO blood typing showed the rare A m phenotype. The c.467C/T and c.912C/A heterozygous sites in Exon 7 were identified by direct sequencing analysis. Further TA cloning and sequencing revealed that the patient carried an ABO*O.01.01 allele and a novel ABO*A allele. The new allele sequence had one nucleotide alteration (C>A) at position 912 on the background of the ABO*A1.02 allele. The c.912C>A mutation was predicted to be “probably damaging” and “deleterious” by PolyPhen‐2 and PROVEAN algorithms, respectively. Conclusion A novel mutation c.912C>A in α‐1,3‐N‐acetylgalactosaminyltransferase gene resulting in A m phenotype was identified in a Chinese individual.