Polymorphisms of the Exons 13, 15 and 16 of Transferrin Gene in Cheju Horses

제주마 Transferrin Gene Exon 13, 15 및 16의 다형현상

  • Kim, N.Y. (Department of Animal Biotechnology, Cheju National University) ;
  • Lee, S.S. (National Jeju Agricultural Experiment Station, R.D.A.) ;
  • Yang, Y.H. (Department of Animal Biotechnology, Cheju National University)
  • 김남영 (제주대학교 동물자원과학과) ;
  • 이성수 (농촌진흥청 제주농업시험장) ;
  • 양영훈 (제주대학교 동물자원과학과)
  • Published : 2002.08.31


This study was conducted to determine the polymorphism of transferrin exons 13, 15 and 16 by Single-Strand Conformation Polymorphism(SSCP) analysis and to compare their genotypes of Cheju horse Group I (Cheju Institute), Cheju horse Group II (farms), and Thoroughbred (KRA). SSCP of transferrin exon 13, 15, and 16 showed two (A, B), three (A, B, C) and three (A, B, C) codominant alleles, respectively. The Group I and Thoroughbred showed the similar frequencies of allele A and B in transferrin exon 13, but only allele A was observed in Group Ⅱ. In transferrin exons 15 and 16, the frequencies of each allele were different in each Groups. The multiple allele frequencies in exons 15 and 16 suggested that the genotyping of this locus could be used to identify an individual and to test the parentage of offspring. The probability for parentage exclusion were 0.46 and 0.374 for exons 15 and 16 for Cheju horse Group I. Among the 13 combined genotypes of exons 13, 15 and 16, the genotype AA-AB-AB (0.372) is the most common in Cheju horse Group I, but genotype AA-AA-AA is common in the Cheju horse Group II (0.366) and Thoroughbred (0.767). The present study showed two new SNP, which was at the cDNA position 1626 (A/G) in B allele of the exon 13 and 2075 (C/T) in C allele of the exon 16 resulting in amino acid change (Threonine $\longrightarrow$ Methionine). Result showed that polymorphism of exons 13, 15 and 16 in Cheju horses was as high as in Thoroughbred and there was a differences of transferrin allele frequencies in Cheju horses.


SSCP;Transferrin;SNP;Cheju Horse


  1. Alberts, B., Bray, D., Lewis, J., Raff, M., Roberts, K. and Watson, J. D. 1989. Molecular Biology of The Cell. 2nd ed., Garland Publishing, Inc., New York, U.S.A.
  2. Anderson, B. F., Baker, H. M., Norris, G. E., Rice, D. W. and Baker, E. N. 1989. Structure of human lactoferrin: Crystal structure analysis and refinement at 2.8A resolution. Journal of Molecular Biology. 209:711-734.
  3. Baily, S., Evans, R. W., Garratt, R. C., Gorinsky, B., Hasnain, S., Horsburgh, C., Jhoti, H., Lindley, P. F., Mydin, A., Sarra, R. and Watson, J. L. 1988. Molecular structure of serum transferrin at 3.3-A resolution. Biochemistry. 27:5804-5812.
  4. Baker, E. N., Rumball, S. V. and Anderson, B. F. 1987. Transferrin: insights into structure and function from studies on lactoferrin. Trends in biochemical science. 12:350-353.
  5. Bowling, A. T. 1996. Horse Genetics. CAB International., Oxford Publications., P. 84-86.
  6. Brandon, R. B., Giffard, J. M. and Bell, K. 1999. Single nucleotide polymorphisms in the equine transferrin gene. Animal Genetics. 30:439-443.
  7. Carpenter, M. A. and Broad, T. E. 1993. The cDNA sequence of horse transferrin. Biochimica et Biophysica Acta. 1173:230-232.
  8. Carpenter, M. A. and Broad, T. E. 1994. Poly- morphismin the coding sequence of the horse transferrin gene. Genome. 37:157-165.
  9. Choung, C. C., Yang, Y. H., Kim, J. K. and Kang, M. S. 1991. Studies on the classification for the registration of the Cheju Native Horse. I. Body measurements by location, sex, and age. Korean Journal of Animal Science. 33(6):418-422.
  10. Gardner, E. J., Simmons, M. J. and Smustad, D. P. 1991. Principles of Genetics, 8th ed. John Wiley & Sons, Inc.
  11. Ghareeb, B. A. A., Thepot, D., Puissant, C., Cajero-Juarez, M. and Houdebine, L. M. 1998. Cloning, structural organization and tissue-specific expression of the rabbit transferrin gene. Bio- chimica et Biophysica Acta. 1398:387-392.
  12. Jamieson, A. and Taylor, St. C. S. 1997. Com- parisons of three probability formulae for parent- age exclusion. Animal Genetics. 28:397-400.
  13. Kim, G. O. and Oh, M. Y. 1995. Polymorphism of Plasma Proteins by Two Dimensional Hori- zontal Electrophoresis in Cheju Native Horse. Korean Journal of Animal Science. 37(6):603-610.
  14. Kim, K. I., Yang, Y. H., Lee, S. S., Park, C., Ma, R., Bouzat, J. L. and Lewin, H. A. 1999. Phylogenetic relationships of Cheju horses to other horse breeds as determined by mtDNA D-loop sequence polymorphism. Animal Genetics. 30:102-108.
  15. Lear, T. L., Brandon, R., Masel, A., Bell, K. and Bailey, E. 1999. Horse alpha-1-antitrypsin, beta- lactoglobulins 1 and 2, and transferrin map to positions 24q15-q16, 28q18-qter, 28q18-qter and 16q23, respectively. Chromosome Research. 7:667.
  16. Lee, K. M. 1961. Biostatistic study on the type of the Cheju Horse in Quelport. Korean Journal of Animal Science. 3:63-73.
  17. Lehninger, A. L. 1982. Principles of Biochemistry. Worth Publishers, Inc., New York, U.S.A.
  18. Miller, S. A., Dykes, D. D. and Polesky, H. F. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research. 16(3):1215.
  19. Oh, M. Y., Ko, M. H., Kim, G. O., Kim, S. J., Chung, C. C. and Kim, K. I. 1992. Genetic variations of the blood proteins in Cheju Native Horses. Korean Journal of Genetics. 14(1):39-50.
  20. Oh, Y. S., Oh, M. Y., Kim, S. J., Kim, G. O., Ko, M. H. and Yang, Y. H. 1995. Phylogenetic study of Cheju and Tsushima Native Horses. Korean Journal of Animal Science. 38:324-329.
  21. Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. 1989. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 5:874-879.
  22. Schaeffer, E., Lucero, M. A., Jeltsch, J. M., Py, M. C., Levin, M. J., Chambon, P., Cohen, G. N. and Zakin, M. M. 1987. Complete structure of the human transferrin gene. Comparison with the analogous chicken gene and human pseudogene. Gene. 56:109-116.
  23. Shin, J. A., Kim, S. H., Kim, Y. H., Chun, C. I. and Lee, K. K. 1999. Genetic Polymorphism of Serum Protein in Horses on Cheju. Journal of Research Institute for Animal Biotechnology. 14:149-157.
  24. Shirsat, N. V., Bittenbender, S., Kreider, E. L. and Rovera, G. 1992. Structure of the murine lactotransferrin gene is similar to the structure of other transferrin-encoding genes and shares a putative regulatory region with the murine myeloperoxidase gene. Gene. 110:229-233.
  25. Weaver, R. F. and Hedrick, P. W. 1991. Basic Genetic. Wm. C. Brown Publishers, IA 52001. U.S.A.
  26. Yang, Y. H., Chang, C. C., Lee, H. J. and Kang, T. S. 1991. Studies on the classification for the registration of the Cheju Native Horse. Ⅱ. The effect of the Registration Grade on the Body Measurements of Cheju Native Horse. Korean Journal of Animal Science. 33(6):438-443.
  27. Yang, Y. H., Kim, J. and Cho, D. J. 1996. Estimation of the Growth Performance of Cheju Native Horse in Cheju Island. Journal of Research Institute for Animal Biotechnology. 11:9-28.