[Identification and the Related Molecular Mechanism of Allele].

Objective: To investigate the identification and molecular biological mechanism of a case of allele.

Methods: The ABO blood groups of the proband and his nine family members were analyzed serologically and DNA sequencing was used to accurately determine the genotypes of these ten specimens. The cartoon models of local active center of enzymes of the GTA,GTB and the GTB mutant were constructed to explore the possible molecular mechanism leading to abnormal enzyme-catalyzed A antigen synthesis.