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[Molecular genetic analysis of two individuals with Bw subtypes of ABO variant].

Authors: Gui-ji, Li; Xu, Zhang;

[Molecular genetic analysis of two individuals with Bw subtypes of ABO variant].

Abstract

To investigate the molecular characteristics of Bw subgroup of ABO variant.Two individuals with Bw phenotypes were confirmed by standard serological assays. ABO genotype was analyzed with polymerase chain reaction-sequence specific primer (PCR-SSP) method. Exons 6-7 of B genes were amplified by specific PCR, and the PCR product was subjected to direct sequencing.The probands were identified as Bw phenotype by serological assays. As detected by PCR-SSP, the genotypes of the two probands were both B/O2. Compared with the wild-type B101, the B allele in one individual has harbored a missense mutation (C721T) in exon 7, which resulted in an amino acid substitutions (R241S). In the second individual, the B allele has harbored a missense mutation (C278T) in exon 6, which also resulted in an amino acid substitution (P93L).A Bw03 allele and a Bw12 allele were identified, which resulted in varied intensity of B antigen expression.

Related Organizations
Keywords

Adult, Male, Base Sequence, Genotype, Molecular Sequence Data, Mutation, Missense, Exons, ABO Blood-Group System, Phenotype, Amino Acid Substitution, Blood Group Antigens, Humans, Female, Alleles

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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Average
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