[A Bw12 blood type caused by 278C>T mutation of ABO gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2012)

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Abstract
OBJECTIVE:To determine the serotype and genotype of a sample with ABO blood group discrepancies. METHODS:Serotype was determined with serological method. Sequence specific primer polymerase chain reaction (SSP-PCR) was carried out based on the serotype. Sequences of exons 6 and 7 of ABO gene was analyzed by sequence-based testing (SBT). RESULTS:Completely agglutinated A antigen, half agglutinated B antigen and weak agglutinated anti-B antibody were detected in both erythrocytes and serum, which suggested presence of a ABw serotype. An A/Bw12 genotype was revealed by B subgroup detection. Sequences of exons 6 and 7 were 278CT, 297GA and 467CT, 526CG, 657CT, 703GA, 796CA, 803GC, 930GA, respectively. The genotype fit with A102/B101 except for a nt278 C>T mutation. Blood group antigen gene mutation database (BGMUT) search has confirmed the mutant allele to be Bw12. CONCLUSION:An A102/Bw12 genotype has been found in the Chinese population.
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Key words
ABO discrepancy,Bw subgroup,Genotype,Serotype
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