Journal List > Korean J Hematol > v.44(3) > 1032819

Kim, Cho, Kee, Shin, Shin, Suh, and Ryang: Allele-related Variation in Minisatellite Repeats Involved in Transcription of the ABO Gene in Korean Blood Donors

Abstract

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 A2, 12 A2B, 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 common 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 A2 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 common 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.

References

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Fig. 1.
(A) Structure of the CBF/ NF-Y enhancer region (rectangle with shading patterns) of ABO genes and primers Pro-F (5'GG AAACAAATCCTACCCCTAC3') and Pro-R (5'GTGCTGCCTGTGC CTGTTAC3') used in this study. (B) PCR products from representative ABO subgroups and their genotypes separated in 1.8% agarose gel after PCR amplification with primers Pro-F and Pro-R. Lane, M. molecular size marker; 1. A2 (A101/O02); 2. A2 (A201/O01); 3. A2B (A102/B101); 4. A2B (A204/B101); 5. AwB (Aw10/B101); 6. B3 (B101/O01); 7. A1B3 (A102/B101); 8. A1B3 (cis-AB01/A102); 9. A2B (A102/ B306); 10. A2B3 (cis-AB01/B101); 11. B3 (cis-AB01/O01).
kjh-44-127f1.tif
Table 1.
Number of minisatellite repeats present in 102 samples from Korean blood donors with different ABO phenotypes and genotypes
  Phenotype Genotype (ABO∗)∗ No. of minisatellite repeats
  1 1 and 4 4
ABO group∗ (N=41) A A101/A102 1    
  A102/A102 4    
  A101/O01   1  
  A101/O02   1  
  A102/O01   3  
  A102/O02   3  
B B101/B101     4
  B101/O01     4
  B101/O02     3
AB A102/B101   6  
O O01/O01     3
  O01/O02     6
  O02/O02     2
ABO subgroup (N=61) A2 A102/O01 or O02   8 3
  A201/O01 or O02     3
A2B A102/B101   9  
  A204/B101     3
Aweak A102/O01   1  
AweakB Aw10/B101   7  
B3 B101/O01 or O02     10
  Bw03/O01     1
A1B3 A102/B101   2  
  A102/B306   3  
A1Bweak A102/B101   1  
Bweak B101/O01     2
cis-A1B3 cis-AB01/A102 3    
cis-A1Bweak cis-AB01/A102 2    
cis-A2B cis-AB01/B101   1  
cis-A2B3 cis-AB01/O01   2  

ABO genotypes identified by direct sequencing exon 6 and 7 of the ABO gene.

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