Korean J Hematol.  2009 Sep;44(3):127-132. 10.5045/kjh.2009.44.3.127.

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

Affiliations
  • 1Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, Korea. spsuh@chonnam.ac.kr

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.

Keyword

ABO genotype; ABO subgroups; Direct DNA sequencing; Minisatellite repeats; Enhancer

MeSH Terms

Alleles
Blood Donors
Exons
Humans
Korea
Minisatellite Repeats
Phenotype
Polymerase Chain Reaction
Red Cross
Sequence Analysis, DNA
Serologic Tests
Tandem Repeat Sequences
Tissue Donors

Figure

  • 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).


Reference

References

1. Landsteiner K. Ueber agglutinationserscheinungen normalen menschlichen blutes. Zentralbl Bakteriol. 1990; 27:357–63.
2. Yamamoto F, Clausen H, White T, Marken J, Hako-mori S. Molecular genetic basis of the histo-blood group ABO system. Nature. 1990; 345:229–33.
Article
3. Seltsam A, Hallensleben M, Kollmann A, Burkhart J, Blasczyk R. Systematic analysis of the ABO gene diversity within exons 6 and 7 by PCR screening reveals new ABO alleles. Transfusion. 2003; 43:428–39.
4. Cho D, Kim SH, Ki CS, et al. A novel B(var) allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele. Vox Sang. 2004; 87:187–9.
Article
5. Cho D, Shin MG, Yazer MH, et al. The genetic and phenotypic basis of blood group a subtypes in Koreans. Transfus Med. 2005; 15:329–34.
Article
6. Hosseini-Maaf B, Hellberg A, Chester MA, Olsson ML. An extensive polymerase chain reaction-allele-specific polymorphism strategy for clinical ABO blood group genotyping that avoids potential errors caused by null, subgroup, and hybrid alleles. Transfusion. 2007; 47:2110–25.
Article
7. Seltsam A, Das Gupta C, Bade-Doeding C, Blasczyk R. A weak blood group A phenotype caused by a translation-initiator mutation in the ABO gene. Transfusion. 2006; 46:434–40.
Article
8. Kominato Y, Tsuchiya T, Hata N, Takizawa H, Yamamoto F. Transcription of human ABO histo-blood group genes is dependent upon binding of transcription factor CBF/NF-Y to minisatellite sequence. J Biol Chem. 1997; 272:25890–8.
Article
9. Irshaid NM, Chester MA, Olsson ML. Allele-related variation in minisatellite repeats involved in the transcription of the blood group ABO gene. Transfus Med. 1999; 9:219–26.
Article
10. Seltsam A, Wagner FF, Grüger D, Gupta CD, Bade-doeding C, Blasczyk R. Weak blood group B phenotypes may be caused by variations in the CCAAT-binding factor/NF-Y enhancer region of the ABO gene. Transfusion. 2007; 47:2330–5.
Article
11. Cooling L. ABO, H, and Lewis blood groups and structurally related antigens. Roback JD, Combs MR, Grossman BJ, Hillyer CD, editors. Technical manual. 16th ed.Bethesda, MA: American Association of Blood Banks;2006. p. 361–85.
12. Kim SH, Cho D, Choi KL, et al. A case of A1B3 child from a group a mother and A group B father: new group B allele arising from 547 G>A. Korean J Blood Transfus. 2004; 15:45–50.
13. Blumenfeld OO, Patnaik SK. Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the blood group antigen gene mutation database. Hum Mutat. 2004; 23:8–16.
Article
14. Cho D, Kim SH, Jeon MJ, et al. The serological and genetic basis of the cis-AB blood group in Korea. Vox Sang. 2004; 87:41–3.
Article
Full Text Links
  • KJH
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr