Rare ABO Allele Encoding Glycosyltransferase with Dual Specificity Found in a Cambodian Individual with the A2B Phenotype
유홍비, 정유나, 김태열, 서은상, 최광모, 조덕,
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유홍비 ( Yu Hong-Bi )
Sungkyunkwan University Samsung Advanced Institute for Health Sciences and Technology Department of Health Sciences and Technology
정유나 ( Chung Yoo-Na )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
김태열 ( Kim Tae-Yeul )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
서은상 ( Suh Eun-Sang )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
최광모 ( Choi Kwang-Mo )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
조덕 ( Cho Duck )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
Abstract
Cis-AB and B(A) alleles encode an ABO enzyme with dual A and B glycosyltransferase activity. Although globally rare, the cis-AB phenotype is found relatively often in Korean, Japanese, and Chinese populations. Cases of the B(A) allele have been reported mostly in the Chinese population. Forward typing performed in a Cambodian woman with an ABO discrepancy demonstrated a strong reaction with anti-A and anti-B reagents, while there was no reaction with lectin anti-A1. The anti-A1 antibody was detected in reverse typing. Through ABO gene sequence analyses of exons 6 and 7, one of the alleles was identified as ABO*B.01. In contrast, the other allele harboring a c.803G>C substitution was either ABO*cisAB.05 or ABO*BA.06 allele. The ABO*cisAB.05 and ABO*BA.06 alleles remain indistinguishable despite routine serological testing and ABO genotyping. To the best of the author’s knowledge, this is the first case report of these variants discovered in a Cambodian individual residing in Korea.
키워드
ABO; Genotyping; cis-AB; B(A)
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