Sequence analysis of cisAB06, an ABO blood subtype / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 172-175, 2013.
Article
in Zh
| WPRIM
| ID: wpr-237288
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate serological and genetic characteristics for an individual with cisAB06, an ABO blood subtype.</p><p><b>METHODS</b>Antigens on red blood cells from the ABO blood group discordant individual were validated by monoclonal antibodies. The ABO antibodies in serum were validated by standard A, B, O cells. ABO genes were analyzed by polymerase chain reaction-sequence specific primer (PCR-SSP). Exons 6-7 of A/B genes were amplified with specific PCR, and the products were directly sequenced.</p><p><b>RESULTS</b>Both A and B antigens were detected on red blood cells from the proband. There was also anti-A antibody in the serum. The result of PCR-SSP has suggested a B/O02 phenotype. Direct sequencing revealed that the gene was cisAB06. Compared with B101 allele, the cisAB06 allele featured a single nucleotide change (G>C) at position 526 which resulted in an amino acid substitution (G176R).</p><p><b>CONCLUSION</b>G>C at nt526 of B allele can produce a cisAB06 allele. The serological phenotype of the specimen is therefore type AB.</p>
Full text:
1
Index:
WPRIM
Main subject:
ABO Blood-Group System
/
Molecular Sequence Data
/
Base Sequence
/
Sequence Analysis, DNA
/
Alleles
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Allergy and Immunology
/
Genetics
/
Mutation
Limits:
Adult
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Female
/
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article