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Background: The CBF/NF-Y enhancer region of ABO gene reported to contain 43bp minisatellite tandem repeats has been rarely reported. We describe here the relationship between minisatellite tandem repeats and ABO alleles in samples from Korean population with common ABO blood group and rare ABO subgroup. Methods: Sixty one cases of ABO subgroup (14 A 2, 12 A2 B, 1 Aweak, 7 AweakB, 11 B3, 5 A1B3, 1 A1Bweak, 2 Bweak, and 8 cis-AB) and 41 cases of common ABO blood group (13 A, 6 AB, 11 B, and 11 O) were obtained from healthy donors at the Gwangju-Chonnam Red Cross Blood Center between Sep 2004 and Aug 2005. Red cells were phenotyped by standard serologic tests and genotyped by direct DNA sequencing exon 6 and 7 of the ABO gene. The minisatellite repeats were analyzed by PCR method. Results: The ABO*A101 and *A102 had only one repeat, *B101, *O01 and *O02 had 4 repeats in com- mon ABO blood group, while the *A102, *cis-AB01, and *Aw10 had only one minisatellite repeat and *A201, *A204, *B101, *Bw03, *B306, *O01, and *O02 alleles had 4 repeats and unexpectedly 3 A 2 cases with *A102 had 4 repeats in the rare ABO subgroup. Conclusion: The minisatellite repeats found in Koreans correlate well with ABO alleles in sample com- mon ABO phenotype, but do not completely correlate with those of ABO subgroup. We revealed here a pattern of the minisatellite repeats in various ABO subgroup in Korea. (Korean J Hematol 2009;44:127-132.)

Allele-related Variation in Minisatellite Repeats Involved in Transcription of the ABO Gene in Korean Blood Donors