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Complete Sequencing of the ABO Alleles of the Common ABO Group and Rare ABO Subgroups in Koreans
한국인 정상 ABO 및 아형의 ABO 대립유전자의 전체염기서열분석
The Korean Society of Blood Transfusion 2012;23:1−12
Published online April 30, 2012
© 2012 The Korean Society of Blood Transfusion.

Eun-Jeong Won1, Geon Park2, Duck Cho1, A Hyun Lim3, So-Yong Kwon4, Hye-Rim Song5, Sun-Seog Kweon5, Myung-Geun Shin1, Nam-Sun Cho4, Dong-Wook Ryang1
원은정1ㆍ박 건2ㆍ조덕1ㆍ임아현3ㆍ권소영4ㆍ송혜림5ㆍ권순석5ㆍ신명근1ㆍ조남선4ㆍ양동욱1
Background:Complete sequencing, except for intron 1, of the ABO allele in some populations has been reported. However, so far, one report on complete sequencing of the ABO gene in three Korean families with normal ABO phenotypes has been published. This study aimed to establish a reference database of common ABO alleles in Koreans.
Methods:Screening of common ABO alleles, including homozygote form, was performed by direct sequencing of exons 6 and 7 and by real-time PCR using displacing probes in 95 healthy donors. Genomic DNA from the common ABO group (n=8) and some ABO subgroups (n=7) was used in complete sequencing (except for intron 1) of the ABO allele.
Results:The sequences of B101/B101 (n=1), O01/O01 (n=1) were identical with the corresponding sequences registered in Genebank. A102 and A105 had a common point mutation, 1142 C>T in intron 4. A102 (n=3/11) and O02 (n=3/3), selected by sequencing of exons 6 and 7, were reclassified into A105 and O65 by whole genomic sequencing, respectively. Analytic results for ABO subgroups were as follows: B3, B101/O01 (n=3) and B101/O02 (n=1); A1B3, A102/B101 (n=1) and A105/B101 (n=1); Ax, A102/O01 (n=1).
Conclusion:We established a reference database of common ABO alleles in Koreans and found that the molecular basis of introns of ABO alleles in the Korean population differs from that reported in previous studies of other populations. (Korean J Blood Transfus 2012;23: 0-12)
Keywords : ABO genotype, Whole sequencing, Reference

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