Serological and molecular study of a novel B(A) allele with multiple missense mutations / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 20-22, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879514
ABSTRACT
OBJECTIVE@#To explore the molecular basis for an individual suspected as AwB subtype through DNA sequencing.@*METHODS@#ABO serology was carried out with the standard tube method. To identify the ABO gene haplotype, the amplicons of exon 7 were cloned and sequenced.@*RESULTS@#Serological results showed that the forward typing was AwB and the reverse typing was B. Sequencing analysis revealed that the sample has contained an O01 allele in addition with c.297A>G, c.657C>T, c.796C>A, c.803G>C, c.930G>A variants as compared with the A101 allele.@*CONCLUSION@#Through sequencing analysis, the sample with an AwB subtype by serological testing was identified as a novel B(A) phenotype, which was unreported previously.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
ABO Blood-Group System
/
Base Sequence
/
Exons
/
Mutation, Missense
/
Alleles
Type of study:
Prognostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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