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KMID : 0387720100210020148
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Korean Journal of Blood Transfusion
2010 Volume.21 No. 2 p.148 ~ p.153
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New Variant of O02 Allele Found in the Family of Cis-AB: Report of Three Cases in a Family
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Won Eun-Jeong
Jang Min-Joong
Cho Duck
Shin Dong-Jun
Shin Myung-Geun
Ryang Dong-Wook
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Abstract
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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.
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KEYWORD
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ABO discrepancy, O02 variant, Allele-separation
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