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1.
Chinese Journal of Medical Genetics ; (6): 1226-1229, 2019.
Artigo em Chinês | WPRIM | ID: wpr-799983

RESUMO

Objective@#To explore the serological and genotypic characteristics of a pedigree with B(A).06 subtype.@*Methods@#Serological methods was used to identify the ABO phenotypes. Exons 6 and 7 of the ABO gene and flanking regions were subjected to direct sequencing and TA clonal sequencing in order to determine the genotype of individuals with inconsistent results for forward and reverse serological typing.@*Results@#Among 12 individuals from 4 generations, 5 were identified with a AwB phenotype, along with a c. 803C>G mutation in exon 7 of the B allele, which was named as B(A).06. The B(A).06/O.01.01 phenotype may be easily missed due to its weak anti-A antibody in the serum upon initial serological test.@*Conclusion@#A B(A).06 subtype family was identified. The serological phenotype of individuals carrying the B(A).06 allele may be affected by the opposite DNA strand.

2.
Chinese Journal of Medical Genetics ; (6): 1226-1229, 2019.
Artigo em Chinês | WPRIM | ID: wpr-781310

RESUMO

OBJECTIVE@#To explore the serological and genotypic characteristics of a pedigree with B(A).06 subtype.@*METHODS@#Serological methods was used to identify the ABO phenotypes. Exons 6 and 7 of the ABO gene and flanking regions were subjected to direct sequencing and TA clonal sequencing in order to determine the genotype of individuals with inconsistent results for forward and reverse serological typing.@*RESULTS@#Among 12 individuals from 4 generations, 5 were identified with a AwB phenotype, along with a c.803C>G mutation in exon 7 of the B allele, which was named as B(A).06. The B(A).06/O.01.01 phenotype may be easily missed due to its weak anti-A antibody in the serum upon initial serological test.@*CONCLUSION@#A B(A).06 subtype family was identified. The serological phenotype of individuals carrying the B(A).06 allele may be affected by the opposite DNA strand.


Assuntos
Humanos , Sistema ABO de Grupos Sanguíneos , Genética , Alelos , Genótipo , Linhagem , Fenótipo , Mutação Puntual
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