Phenotype and Genotype of Cis-AB Family in Chonnam Area / 대한수혈학회지

ABSTRACT

BACKGROUND: Cis-AB is a rare blood ABO with unusual inheritance on the same chromosome that result from a point mutation. It is relatively common in Korean and Japanese populations. We analyzed serological and molecular genetic characteristics of the family with cis-AB who had visited Chonnam National University Hospital (CNUH) for 10 years. MATERIAL AND METHODS: The subjects of this study comprised 88 samples derived from cis-AB family of 17 propositi with A2B3 phenotype diagnosed at CNUH between January 1993 and May 2002. Serologic tests for cis-AB were performed in detail on the ABO antigens of 49 samples, polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method for cis-AB genotyping was additionally performed in peripheral blood DNA samples from 19 cases. RESULTS: The phenotypes of 49 cases were composed of 39 cases of A2B3, 7 of A2B, 2 of A1B3 and 1 of A1. ABO genotype on the blood samples from 19 cis-AB cases showed 11 cases of cis-AB/O with phenotype A2B3, 6 of cis-AB/B with phenotype A2B, 1 of cis-AB/A with phenotype A1B3 and 1 of cis-AB/A with phenotype A1. CONCLUSIONS: These data demonstrated that the most frequent type of cis-AB cases in Chonnam area was cis-AB/O with phenotype A2B3 and a case of cis-AB/A with unusual A1 phenotype was found.