Objective To identify the Bel subtype of c.586T＞C mutation by third-generation technology,and analyze the serological characteristics of the Bel subtype blood group system.Methods The ABO blood type phenotyping examination relies on serological methods.In cases where there is a discrepancy between the ABO forward and reverse typing in a familial sample,the ABO gene's 6th and 7th exons are sequenced using Sanger sequencing.The full-length haplotype analysis of ABO gene was performed in 3 samples of proband and her children using the PacBio third-generation technology.Results The proband's serological phenotype is identified as the Bel subtype.Sequence analysis reveals a mutation at position c.586T＞C in the 7th exon of the ABO gene.The haplotype analysis through third-generation technology confirms the proband's ABO genotypes as ABO*BEL(c.586T＞C)/O01.02.As for their eldest son and daughter,their genotypes are determined as ABO*A1.02/BEL(c.586T＞C)and ABO*B.01/BEL(c.586T＞C),respectively.Conclusion The c.586T＞C mutation at the site is responsible for the molecular basis of the Bel phenotype in this case.PacBio third-generation technology enables accurate identification of ABO subtype haplotypes.
The Bel subtypeBlood group serologyMolecular mechanismHaplotype identificationPacBio third-generation technology
国家科技期刊平台
NSTL
万方数据
维普
