Molecular genetic analysis for the A3 alleles / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 135-139, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-347810
ABSTRACT
To study four A(3) subgroup samples identified by serologic tests, among which two belong to a family, three were A(3) subgroup, one was A(3)B subgroup. All four samples were genotyped by PCR-SSP method, and the nucleotide sequences of Exon 6, Exon 7 and part introns at the ABO locus for these samples were detected by ABI Prism 3100 DNA sequencer. Comparison with the consensus of A101 was performed. The results showed that haplotypes of two A(3) subgroups were common A102 allele and O1-2 allele, and haplotypes of one A(3) subgroup were common A102 allele and rare O(1v)-4 allele. Unexpectedly, a synonymous substitution 838C-->T had been found in A allele of the A(3)B subgroup sample, which predict a Leu280Phe alteration. The results suggested that molecular genetic background of the A(3) phenotypes is polymorphic. Possibly, the missense mutation 838C-->T is the molecular genetic basis of A(3)B subgroup that lead to low activity of the glycosyltransferases.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
ABO Blood-Group System
/
DNA Mutational Analysis
/
Base Sequence
/
Introns
/
China
/
Polymerase Chain Reaction
/
Exons
/
Asian People
/
Alleles
Type of study:
Prognostic study
Limits:
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Journal of Experimental Hematology
Year:
2005
Type:
Article
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