Three-step PCR and RFLP Genotyping of the Swine Ryanodine Receptor Gene Using Aged Single Hair Follicles Delivered by General Mail

DOI QR코드

DOI QR Code

Kim, Y.;Woo, S.C.;Song, G.C.;Park, H.Y.;Im, B.S.;Kim, G.W.

  • 투고 : 2001.06.15
  • 심사 : 2002.05.03
  • 발행 : 2002.09.01

초록

We have developed a reliable and noninvasive method for swine genotyping of single locus nuclear gene with aged single hair follicles delivered by general mail. The method is based on booster and nested PCR amplification with step-wise increase of primers and dNTPs concentrations followed by restriction endonuclease digestion. To establish this method, the ryanodine receptor (RYR 1) locus which is an economically important trait in swine industry was employed for genotyping experiment. The 3-step PCR amplication method is much less dependent on the quantity and quality of template DNA and produces enough amplification product for the detection on the ethidium bromide-stained gel such as RFLP analysis. A total of 120 pigs were subjected to the RYR 1 genotyping analysis using three-step PCR method which amplified enough quantity of PCR products from the aged single hair follicles for RFLP analysis and genotyping results were identical to the results of the corresponding ethanol-fixed skeletal muscle tissue. This approach will be a great help for porcine breeders and investigators in genotyping of swine. They can receive genotyping results later by simply plucking single hairs of their pigs at farm and sending them in general mail to the diagnostic laboratory which eliminates the inconveniences to collect ear tissue or blood cells from pigs, or the investigator's need for travel to farms in order to collect fresh hair samples.

키워드

Three-step (Booster and Nested) PCR Amplification;RFLP Analysis;Aged Hair Follicles;RYR 1 Locus;Genotyping

참고문헌

  1. Haedicke, W., H. Wolf, W. Ehret and U. Reischl. 1996. Specific and sensitive two-step polymerase chain reaction assay for the detection of Salmonella species. Eur. J. Clin. Microbiol. Infect. Dis. 15:603-607. https://doi.org/10.1007/BF01709372
  2. Han C-Y., B. K. Lin and H. J. Lin. 1992. Methanol for preparing hair bulbs for PCR. Nucleic Acids Res. 20:6419-6420. https://doi.org/10.1093/nar/20.23.6419
  3. Houde, A., S. A. Pommier and R. Roy. 1993. Detection of the ryanodine receptor mutation associated with malignant hyperthermia in purebred swine populations. J. Anim. Sci. 71:1414-1418. https://doi.org/10.2527/1993.7161414x
  4. Nelson, T. E. 1983. Abnormality in calcium release from skeletal sarcoplasmic reticulum of pigs susceptible to malignant hyperthermia. J. Clin. Invest. 72:862-870. https://doi.org/10.1172/JCI111057
  5. Ruano, G., K. K. Kidd and J. C. Stephens. 1990. Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules. Proc. Natl. Acad. Sci. USA. 87:6296-6300. https://doi.org/10.1073/pnas.87.16.6296
  6. Wilson, M. R., D. Polanskey, J. Butler, D. J. Replogle and B. Budowle. 1995. Extraction, PCR amplification and sequencing of mitochondrial DNA from human hair shafts. BioTechniques 18:662-669.
  7. Ylitalo, N., T. Bergstrom and U. Gyllensten. 1995. Detection of genital human papillomavirus by single-tube nested PCR and type-specific oligonucleotide hybridization. J. Clin. Microbiol. 33:1822-1828.
  8. Fill, M., R. Coronado, J. R. Mickelson, J. Vilven, J. Ma, B. A. Jacobson and C. F. Louis. 1990. Abnormal ryanodine receptor channels in malignant hyperthermia. Biophys. J. 57:471-475. https://doi.org/10.1016/S0006-3495(90)82563-7
  9. Nakajima, E., T. Matsumoto, R. Yamada, K. Kawakami, K. Takeda, A. Ohnish and M. Komatsu. 1996. Use of a PCR-single stranded conformation polymorphism (PCR-SSCP) for detection of a point mutation in the swine ryanodine receptor (RYR1) gene. J. Anim. Sci. 74:2904-2906. https://doi.org/10.2527/1996.74122904x
  10. Taberlet, P., S. Griffin, B. Goossens, S. Questiau, V. Manceau, N. Escaravage, L. P. Waits and J. Bouvet. 1996. Reliable genotyping of samples with very low DNA quantities using PCR. Nucleic Acids Res. 24:3189-3194. https://doi.org/10.1093/nar/24.16.3189
  11. Vogeli, P., R. Bolt, R. Fries and G. Stranzinger. 1994. Cosegregation of the malignant hyperthermia and the $Arg^{615}$-$Cys^{615}$ mutation in the skeletal muscle calcium release channel protein in five european landrace and pietrain pig breeds. Anim. Genet. 25:59-65. https://doi.org/10.1111/j.1365-2052.1994.tb00404.x
  12. Wegmuller, B., J. Luthy and U. Candrian. 1993. Direct polymerase chain reaction detection of Campylobacter jejuni and Campylobacter coli in raw milk and dairy products. Appl. Environ. Microbiol. 59:2161-2165.
  13. Harbitz, I., T. Kristensen, M. Bosnes, S. Kran and W. Davies. 1992. DNA sequence of the skeletal muscle calcium release channel cDNA and verification of the Arg615$\longrightarrow$Cys615 mutation, associated with porcine malignant hyperthermia, in norwegian landrace pigs. Anim. Genet. 23:395-402. https://doi.org/10.1111/j.1365-2052.1992.tb02157.x
  14. Lee, J. C-I. and J-G. Chang. 1992. ABO genotyping by polymerase chain reaction. J. For. Sci. 37:1269-1275.
  15. MacLennan, D. H. and M. S. Phillips. 1992. Malignant hyperthermia. Science 256:789-793. https://doi.org/10.1126/science.1589759
  16. Fujii, J., K. Otsu, F. Zorzato, S. de Leon, V. K. Khanna, J. E. Weiler, P. J. O'Brien and D. H. MacLennan. 1991. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science 253:448-451. https://doi.org/10.1126/science.1862346
  17. Wu, D.Y., L. Ugozzoli, B. K. Pal and R. B. Wallace. 1989. Allelespecific enzymatic amplification of ${\beta}$-globin genomic DNA for diagnosis of sickle cell anemia. Proc. Natl. Acad. Sci. USA. 86:2757-2760. https://doi.org/10.1073/pnas.86.8.2757
  18. Allen, M., A-S. Engstrom, S. Meyers, O. Handt, T. Saldeen, A. von Haeseler, S. Paabo and U. Gyllensten. 1998. Mitochondrial DNA sequencing of shed hairs and saliva on robbery caps: sensitivity and matching probabilities. J. For. Sci. 43:453-464.
  19. Paabo, S., J. A. Gifford and A. C. Wilson. 1988. Mitochondrial DNA sequences from a 7000-year old brain. Nucleic Acids Res. 16:9775-9787. https://doi.org/10.1093/nar/16.20.9775
  20. Li, H., U. B. Gyllensten, X. Cui, R. K. Saiki, H. A. Erlich and N. Arnheim. 1988. Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature 335:414-417. https://doi.org/10.1038/335414a0
  21. Ohhara, M., Y. Kurosu and M. Esumi. 1994. Direct PCR of whole blood and hair shafts by microwave treatment. BioTechniques 17:726-728.
  22. MacLennan, D. H., C. Duff, F. Zorzato, J. Fujii, M. Phillips, R. G. Korneluk, W. Frodis, B. A. Britt and R. G. Worton. 1990. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 343:559-561. https://doi.org/10.1038/343559a0
  23. Higuchi, R., C. H. von Beroldingen, G. F. Sensabaugh and H. A. Erlich. 1988. DNA typing from single hairs. Nature 332:543-546. https://doi.org/10.1038/332543a0
  24. Taberlet, P. and J. Bouvet. 1992. Bear conservation genetics. Nature 358:197. https://doi.org/10.1038/358197a0
  25. Lee, H. C., E. M. Pagliaro, K. M. Berka, N. L. Folk, D. T. Anderson, G. Ruano, T. P. Keith, P. Phipps, G. L. Herrin, D. D. Garner and R. E. Gaensslen. 1991. Genetic markers in human bone: Deoxyribonucleic acid (DNA) analysis. J. For. Sci. 36:320-330.
  26. Richards, B., J. Skoletsky, A. P. Shuber, R. Balfour, R. C. Stern, H. L. Dorkin, R. B. Parad, D. Witt and K. W. Klinger. 1992. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brush/swabs. Hum. Mol. Genet. 2:159-163. https://doi.org/10.1093/hmg/2.2.159
  27. Uchihi, R., K. Tamaki, T. Kojima, T. Yamamoto and Y. Katsumata. 1992. Deoxyribonucleic Acid (DNA) typing of human leukocyte antigen (HLA)-DQA1 from single hairs in Japanese. J. For. Sci. 37:853-859.
  28. Herman, L. F., J. G. E. De Block and R. B. Moermans. 1995. Direct detection of Listeria monocytogenes in 25 milliliters of raw milk by a two-step PCR with nested primers. Appl. Environ. Microbiol. 61:817-819.
  29. McCarthy, T. V., J. M. S. Healy, J. J. A. Heffron, M. Lehane, T. Deufel, F. Lehmann-Horn, M. Farrall and K. Johnson. 1990. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 343:562-564. https://doi.org/10.1038/343562a0
  30. Cohen, N. D., E. D. Mcgruder, H. L. Neibergs, R. W. Behle, D. E. Wallis and B. M. Hargis. 1994. Detection of Salmonella enteritidis in feces from poultry using booster polymerase chain reaction and oligonucletide primers specific for all members of the genus Salmonella. Poult. Sci. 73:354-357. https://doi.org/10.3382/ps.0730354
  31. Hughes, I. P., C. Moran and F. W. Nicholas. 1992. PCR genotyping of the ryanodine receptor gene for a putative causal mutation for malignant hyperthermia in Australian pigs. J. Anim. Breed. Genet. 109:465-476. https://doi.org/10.1111/j.1439-0388.1992.tb00428.x
  32. Witt, M. and R. P. Erickson. 1989. A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction. Hum. Genet. 82:271-274. https://doi.org/10.1007/BF00291168
  33. Neeser, D. and S. Liechti-Gallati. 1995. Sex determination of forensic samples by simultaneous PCR amplification of $\alpha$-satellite DNA from both the X and Y chromosomes. J. For. Sci. 40:239-241.
  34. Hagelberg, E., B. Sykes and R. Hedges R. 1989. Ancient bone DNA amplified. Nature 342:485. https://doi.org/10.1038/342485a0
  35. Takeshima, H., S. Nishimura, T. Matsumoto, H. Ishida, K. Kangawa, N. Minamino, H. Matsuo, M. Ueda, M. Hanaoka, T. Hirose and S. Numa. 1989. Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor. Nature 339:439-445. https://doi.org/10.1038/339439a0