Identification of a variant Bw37 allele of the ABO gene

VernacularTitle:一例 ABO变异型Bw37等位基因的鉴定
Author: Wenjing YUAN ¹ ; Qianqian CHEN ; Jiajin LIN
Author Information

1. 温州医科大学附属第二医院育英儿童医院，浙江　325027
Keywords: Bw37 Subtype; ABO gene; Genetic variant
From: Chinese Journal of Medical Genetics 2022;39(7):777-779
CountryChina
Language:Chinese
Abstract: Objective:To explore the molecular basis for an individual with a rare variant of Bw37 phenotype.Methods:Tube agglutination testing was used to determine the ABO blood groups. Genotyping were carried out using polymerase chain reaction-sequence specific primer (PCR-SSP) and direct sequencing for exons 6 and 7 of the ABO locus. Results:Serologic testing of the proband showed that he was weak B for the positive ABO blood typing and B for the negative blood typing. The genotype of him was determined as B/B by PCR-SSP. DNA sequencing showed that he has harbored c. 297A>G, c. 526C>G, c. 657C>T, c. 703G>A, c. 796C>A, c. 803G>C and c. 930G>A variants, which have resulted in p. R176G, p. G235S and p. G268A substitutions. The genotypes of the proband and his mother were identified as ABO*Bw37/B101 and ABO*O.01.02/ ABO*O.01.01, respectively. Conclusion:Serological identification combined with genotyping should be considered for the verification of ABO subtypes.