Molecular mechanism for a case with ABO subtype Bx10/O01 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the molecular mechanism of a case with ABO subtype Bx10/O01.</p><p><b>METHODS</b>The serological phenotype of the proband was determined with a conventional method, and the ABO genotype was determined by sequence-specific primer polymerase chain reaction (PCR-SSP). Exons 6 and 7 of the ABO gene were amplified with PCR and sequenced. The samples were collected from both parents and analyzed.</p><p><b>RESULTS</b>The proband's erythrocytes were detected with B antigens, along with the presence of anti-B in serum and absence of B substance in saliva. The genotype B/O of the proband was identified by PCR-SSP. Direct sequencing of the proband revealed 261delG/G, 297A/G in exon 6 and 526C/G, 657C/T, 703A/G, 796C/A, 803C/G, 829G/T, 930A/G heterozygote in exon 7, which was assigned as Bx10/O01 genotype. The Bx10 allele of the proband was inherited from his mother.</p><p><b>CONCLUSION</b>The G to T mutation at position 829 of α -1,3-galactosyltransferase enzyme gene has resulted in the Bx10 phenotype.</p>