[Sequence analysis of cisAB06, an ABO blood subtype]

Area of Science:

• Hematology
• Genetics
• Immunology

Background:

• The ABO blood group system is crucial for blood transfusions.
• ABO blood subtypes, like cisAB06, present unique serological and genetic profiles.
• Understanding these subtypes is essential for accurate blood typing and transfusion compatibility.

Observation:

• An individual with the cisAB06 blood subtype exhibited both A and B antigens on red blood cells.
• The individual's serum contained anti-A antibodies.
• Polymerase chain reaction-sequence specific primer (PCR-SSP) analysis suggested a B/O02 phenotype.

Findings:

• Direct sequencing identified the cisAB06 allele, characterized by a single nucleotide change (G>C) at position 526 of the B allele.
• This mutation results in a glycine to arginine substitution (G176R) at amino acid position 176.
• The genetic findings correlate with the observed serological phenotype of AB blood type.

Implications:

• The G>C substitution at nt526 of the B allele is responsible for the cisAB06 allele.
• This research clarifies the genetic basis of a rare ABO blood subtype.
• Accurate characterization of such subtypes is vital for preventing transfusion reactions and advancing transfusion medicine.