A novel <scp>ABO</scp> insertion c.<scp>797insT</scp> giving rise to an A<sub>el</sub> phenotype

Wu, Wen Lung; Huang, Xiangyan

doi:10.1111/trf.15800

Cited by 1 publication

(1 citation statement)

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“…The ABO*O.02 alleles result from the c.802G>A (pGly268Arg) substitution in exon 7 and affect the enzyme's sugar substrate specificity (Yamamoto, McNeill, Yamamoto, Hakomori, Bromilow, & Duguid, 1993). Several other nt substitutions, insertion or deletion‐based mutations being possible causes for inactive O alleles or weak ABO transferase activity were reported (Cai et al, 2008; Hosseini‐Maaf et al, 2005; Ma et al, 2022; Matzhold et al, 2015, 2016, 2018; Matzhold, Drexler, et al, 2020; Seltsam & Blasczyk, 2005; Wu & Huang, 2020a, 2020b; Yamamoto, McNeill, Yamamoto, Hakomori, Bromilow, et al, 1993; Yamamoto, McNeill, Yamamoto, Hakomori, & Harris, 1993; Yu et al, 2002; Zhang et al, 2022). Furthermore, hybrid alleles are formed by the interaction of ABO*O.01 alleles with A or B alleles.…”

Section: Introductionmentioning

confidence: 99%

Allele‐specific long‐range sequencing as a method for ABO haplotyping in clinical blood group diagnosis and immunohematology research

Matzhold,

Drexler‐Helmberg,

Helmberg

et al. 2023

Molec Gen & Gen Med

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BackgroundSafe transfusion therapy requires accurate testing of blood donors and recipients to determine their ABO blood group compatibility. Genotyping does not always clarify serological blood typing discrepancies and conventional PCR methods are not suitable to identify ABO haplotypes. Therefore, an allele‐specific long‐range sequencing‐based typing method was established.MethodsStudy samples (n = 100) and six patient samples were ABO phenotyped and screened for specific single nucleotide polymorphisms (SNP) in the ABO gene. Based on identified heterozygous SNPs in intron 1 (12897G>A), 2 (437C>T) or 4 (102C>A, 1511G>T) both ABO alleles were investigated separately using a high‐fidelity long‐range PCR system and Sanger sequencing. The alleles were correlated to the ABO phenotypes determined.ResultsDirect sequencing of allelic PCR products up to 6743 bases has been successful in discriminating common combinations of the ABO*A1.01, ABO*A2.01, ABO*B.01, ABO*O.01.01, ABO*O.01.02 and ABO*O.02.01 alleles. 10 out of 64 haplotypes were found to be not previously described. The uncommon ABO*AW.31.01 and the unusual O alleles ABO*O.05 and ABO*O.02.03 alleles were detected in patient samples, resolving the initial inconclusive serologic ABO typing results.ConclusionThis method is an effective tool for analyzing ABO haplotypes. Applicable for ABO molecular diagnostics and immunohematology research it may help to improve pre‐transfusion blood type testing.

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