Molecular genetic analysis of a family trio with weak B phenotype / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 897-900, 2018.
Article
in Zh
| WPRIM
| ID: wpr-775809
Responsible library:
WPRO
ABSTRACT
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.
Full text:
1
Index:
WPRIM
Main subject:
Phenotype
/
ABO Blood-Group System
/
Base Sequence
/
Exons
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Sequence Analysis, DNA
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Mutation, Missense
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Alleles
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Genetics
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Genotype
Limits:
Female
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Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2018
Type:
Article