New Variant of O02 Allele Found in the Family of Cis-AB: Report of Three Cases in a Family.
- Author:
Eun Jeong WON
1
;
Min Joong JANG
;
Duck CHO
;
Dong Jun SHIN
;
Myung Geun SHIN
;
Dong Wook RYANG
Author Information
1. Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, Korea. dcho@chonnam.ac.kr
- Publication Type:Case Report
- Keywords:
ABO discrepancy;
O02 variant;
Allele-separation
- MeSH:
Alleles;
Clone Cells;
Cloning, Organism;
Exons;
Genotype;
Heterozygote;
Humans;
Nuclear Family;
Phenotype;
Serologic Tests
- From:Korean Journal of Blood Transfusion
2010;21(2):148-153
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
In preoperative ABO typing, we observed an ABO discrepancy in a 61 year-old patient with A2B3 phenotype. Standard serologic tests for the ABO blood group phenotypes and ABO gene direct sequencing for the exons 6 and 7 were done as part of the patient's family study. We found that the patient's genotype was identical to cis-AB01/O02, except for a 703 G>A polymorphism at exon 7. An allele-separation by cloning and subsequent sequencing of the heterozygote was carried out. We identified a novel O02 variant allele characterized by a 703 G>A polymorphism in the patient and in her 2 daughters.
