Korean J Blood Transfus.  2002 Dec;13(2):127-134.

Phenotype and Genotype of Cis-AB Family in Chonnam Area

• Cho D
• Yang SJ
• Park MR
• Suh SP
• Jeon MJ
• Seo DH
• Ryang DW

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.

Keyword

Cis-AB; Chonnam area; Phenotype; Genotype

MeSH Terms

Asian Continental Ancestry Group
DNA
Genotype*
Humans
Jeollanam-do*
Molecular Biology
Phenotype*
Point Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Serologic Tests
Wills
DNA