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A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
[Molecular genetic analysis of a family trio with weak B phenotype]
Junhua Hu1, Zhiyang Nie, Jiwu Gong
1Department of Blood Transfusion, Beijing Hospital, National Center of Gerontology, Beijing 100730, China. xkgjw1@139.com.
Objective:
To explore serological and molecular characteristics of a family trio with weak B phenotype.
Methods:
ABO blood type of the family was determined with a serological method. Genotypes of the ABO gene were determined with PCR-sequence specific primer (PCR-SSP). Sequences of exons 6 and 7 of the ABO gene were analyzed by PCR sequence-based testing.
Results:
Serologically, the proband and her father were determined as B subtype (Bw), while her mother was of O group. The genotypes of the proband and her father were Bw12/O, while her mother was O01/O01. Sequencing of exons 6 and 7 of the ABO gene confirmed that the proband and her father were Bw12/O01. Compared with B101/O01, the Bw12 subtype carried a missense mutation (278C>T) in exon 6 of the ABO gene.
Conclusion:
The 278C>T mutation probably underlies the Bw phenotype and can be transmitted stably.
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