Results of monitoring bulls carrier genetic defects
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Keywords:
PCR, RFLP, Real-Time PCR SNPs diagnostics, autosomal recessive point mutation, BLAD, CVM, DUMPS, BC, sires.Abstract
The article provides information about the frequency of occurrence of autosomal recessive lethal mutation – Bovine Leukocyte Adhesion Deficiency (BLAD), Complex vertebral malformation (CVM), Uridine Monophosphate Synthase Deficiencies (DUMPS) and Bovine Citrullinaemia (BC) in breeding bulls JSC «Asyl-Tulik» (N = 67) and LLP «Asyl» (N = 43) of domestic and foreign selection. It is known that harmful allele mutation frequency is high in cattle Holstein, some local cattle breeds prevalence of these mutations is low or non-existent. Detection of lethal mutations of genes CD 18, SLC35A3, UMP and ASS in bulls (N = 110) was performed by PCR-RFLP analysis and Real-Time PCR SNPs diagnostics. It was found that breeding bulls of local breeds, Alatau, Auliekol and Kazakh white-free carriers of harmful mutations - BLAD, CVM, DUMPS and BC. Two facts are revealed heterozygous carriers of CVM bulls of Holstein and Hereford breeds and one case of heterozygous carriers of BLAD animal Holstein foreign selection. The developed diagnostic method allows for two hours to pinpoint healthy animals homozygous and heterozygous carriers of the mutation. The authors of the first technique used Real-Time PCR SNPs diagnostics to identify the genetic defect DUMPS.References
Литература
1. Shuster D.E., Kehrli M.E., Ackerman M.R., Gilbert R.O. Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle //Proceeding of the National Academy of Sciences. -1992.- Vol. 89, No.19.- P. 9225-9229
2. Agerholm J.S., Bendixen C., Andersen O., Arnbjerg J. Complex vertebral malformation in Holstein calves//J Vet Diagn Invest. -2001. - Vol. 13, No.4.- P. 283-289
3. Robinson J.L., Drabik M.R., Dombrowski D.B., Clark J.H. Consequences of UMP synthase deficiency in cattle // Proc. Nati. Acad. Sci. USA. -1986. Vol. 80, No.2.-P. 321-323
4. Harper P.A., Healy P.J., Dennis J.A., O’Brien J.J., Rayward D.H. Citrullinaemia as a cause of death in neonatal Friesian calves //Aust Vet J. -1986.- Vol. 63, No.11.-P. 378-379
5. Schwenger B., Tammen I., Aurich C. Detection of homozygous recessive genotype for deficiency of uridine monophosphate synthase by DNA typing among bovine embryos produced in vitro //J Reprod Fertil. -1994.- Vol. 100.- P. 511-514
6. Poli M.A., Dewey R., Semorile L., Lozano M.E., Albariño C.G., Romanowski V., Grau O. PCR screening for carriers of bovine leukocyte adhesion deficiency (BLAD) and uridine monophosphate synthase (DUMPS) in Argentine Holstein cattle //Zentraibi Veterinaermed A.- 1996. -Vol. 43. No.3.- P. 163-168
7. Dennis J.A., Heally P.J., Beaduet A.L., Obrien W.F. Molecular definition of Bovine Argininosuccinate synthetase deficiency //Proceeding of Natl Acad Sci USA.- 1989.- Vol. 86, No.20. - P. 7947-7951
8. Healy P.J., Dennis J.A., Camilleri L.M., Robinson J.L., Stell A.L., Shanks R.D. Bovine citrullinaemia traced to the sire of Linmack Kriss King // Aus Vet J. -1991.- Vol. 68, No.4.- P. 155
9. Robinson J.L., Popp R.G., Shanks R.D., Oosterhof A., Veerkamp J.H. Testing for deficiency of uridine monophosphate synthase among Holstein Friesian cattle of North America and Europe // Livest Prod Sci. -1993.-Vol. 36. - P. 287-298
10. Kaminski S., Grzybowsk G., Prusak B., Rure A. No incidence of DUMPS carriers in Polish dairy cattle // J Appl Genet. -2005. Vol. 46, No.4.- P. 395-397
11. Bahnak B.R., Wu Q.Y., Coulombel L., Drouet L., Kerbiriou-Nabias D., Meyer D. A single and efficient method for isolating high molecular weight DNA from mammalian sperm // NAR.-1988.-Vol. 16, No. 3.- P. 1208.
12. Erlich H.A., Gelfand D., Sninsky J.J. Recent advances in the polymerase chain reaction //Science.-1991.- Vol. 252.- P. 1643-1651
13. Huang M.M., Arnheim N., Goodman M.F., Extension of base mispairs by Taq DNA polymerase: implications for single nucleotide discrimination in PCR //NAR.-1992.- Vol. 20, No.17.- P. 4567–4573
14. Усенбеков Е.С., Альпейсов Ш.А., Жансеркенова О.О., Касымбекова Ш.Н. Применение полимеразной цепной реакции для выявления точечной мутации у быков-производителей //Журнал «Ізденістер, Результаты». -2013. № 3.- С. 79-86
15. Grupe S., Diet G., Schwerin M. Population survey of citrullinemia on German Holsteins //Livestock Prod Sci. -1996.-Vol. 45, No. 1.-P. 35-38
16. Zhang Y., Xuehua F., Dongxiao S., Yachun W., Ying Y., Yan X., Shengli Z., Yuan Z.Z. A novel method for rapid and reliable detection of complex vertebral malformation and bovine leukocyte adhesion deficiency in Holstein cattle //J Anim Sci Biotechnol. -2012.-Vol. 3, No.1.-P. 24-30
17. Meydan H., Uğurlu M., Yildiz M.A. Monitoring of BLAD, DUMPS, CVM, BC and FXID in Turkish Native Cattle Breeds // Journal of Agricultural Sciences. -2012.-Vol. 18.- P. 239-245
18. Patel R.K., Singh K.M., Soni K.J., Chauhan J.B., Sambasiva Rao K.R.S. Lack of carriers of Citrullinaemia and DUMPS in Indian Holstein cattle // J Appl Genet. – 2006.-Vol. 47, No.3.- P. 239-242
19. Rahimi G., Nejati-Javaremi A., Olek K. Genotyping BLAD, DUMPS and – CSN loci in Holstein young bulls of the National Animal Breeding Center of Iran //Pakistan J Biol Sci. -2006.- Vol. 9, No.7.- P. 1389-1392
References
1. Shuster DE, Kehrli ME, Ackerman MR, Gilbert RO (1992) Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle. Proceeding of the National Academy of Sciences Vol. 89 (19): P. 9225-9229
2. Agerholm JS, Bendixen C, Andersen O, Arnbjerg J (2001) Complex vertebral malformation in Holstein calves. J Vet Diagn Invest Vol. 13 (4): P. 283-289
3. Robinson JL, Drabik MR, Dombrowski DB, Clark JH (1986) Consequences of UMP synthase deficiency in cattle. Proc. Nati. Acad. Sci. USA Vol. 80 (2), 321-323
4. Harper PA, Healy PJ, Dennis JA, O’Brien JJ, Rayward DH (1986) Citrullinaemia as a cause of death in neonatal Friesian calves. Aust Vet J, Vol. 63 (11): P. 378-379
5. Schwenger B, Tammen I, Aurich C (1994) Detection of homozygous recessive genotype for deficiency of uridine monophosphate synthase by DNA typing among bovine embryos produced in vitro. J Reprod Fertil. Vol. 100: P. 511-514
6. Poli MA, Dewey R, Semorile L, Lozano ME, Albariño CG, Romanowski V, Grau O (1996) PCR screening for carriers of bovine leukocyte adhesion deficiency (BLAD) and uridine monophosphate synthase (DUMPS) in Argentine Holstein cattle. Zentraibi Veterinaermed A Vol. 43 (3): P. 163-168
7. Dennis JA, Heally PJ, Beaduet AL, O’brien WF (1989) Molecular definition of Bovine Argininosuccinate synthetase deficiency. Proceeding of Natl Acad Sci USA, Vol. 86 (20): P. 7947-7951
8. Healy PJ, Dennis JA, Camilleri LM, Robinson JL, Stell AL, Shanks RD (1991) Bovine citrullinaemia traced to the sire of Linmack Kriss King. Aus Vet J, Vol. 68 (4): P. 155
9. Robinson JL, Popp RG, Shanks RD, Oosterhof A, Veerkamp JH (1993) Testing for deficiency of uridine monophosphate synthase among Holstein Friesian cattle of North America and Europe. Livest Prod Sci Vol. 36: P. 287-298
10. Kaminski S, Grzybowsk G, Prusak B, Rure A (2005) No incidence of DUMPS carriers in Polish dairy cattle. J Appl Genet Vol. 46 (4): P. 395-397
11. B.R.Bahnak, Q.Y.Wu, L.Coulombel, L.Drouet, D.Kerbiriou-Nabias and D.Meyer (1988) A single and efficient method for isolating high molecular weight DNA from mammalian sperm.// NAR Vol. 16 (3): P. 1208.
12. Erlich, HA, Gelfand D, Sninsky JJ (1991) Recent advances in the polymerase chain reaction. Science, Vol. 252: P. 1643-1651
13. Huang MM, Arnheim N, Goodman MF (1992) Extension of base mispairs by Taq DNA polymerase: implications for single nucleotide discrimination in PCR. NAR Vol. 20 (17): P. 4567–4573
14. Usenbekov ES, Alpejsov ShA, Zhanserkenova OO, Kasymbekova ShN (2013) The use of polymerase chain reaction for the detection of point mutations in bulls. Journal Іzdenіster, results [Primenenie polimeraznoj cepnoj reakcii dlja vyjavlenija tochechnoj mutacii u bykov-proizvoditelej. Zhurnal Іzdenіster, Rezultaty] 3: 79-86. (In Russian)
15. Grupe S, Diet G, Schwerin M (1996) Population survey of citrullinemia on German Holsteins. Livestock Prod Sci, Vol. 45 (1): P. 35-38
16. Zhang Yi , Xuehua Fan, Dongxiao Sun, Yachun Wang, Ying Yu, Yan Xie, Shengli Zhang and Yuan Zhang Zhang (2012). A novel method for rapid and reliable detection of complex vertebral malformation and bovine leukocyte adhesion deficiency in Holstein cattle. J Anim Sci Biotechnol Vol. 3 (1): P. 24-30
17. Meydan H, Uğurlu M, Yildiz MA (2012) Monitoring of BLAD, DUMPS, CVM, BC and FXID in Turkish Native Cattle Breeds. Journal of Agricultural Sciences. Vol. 18: P. 239-245
18. Patel RK, Singh KM, Soni KJ, Chauhan JB, Sambasiva Rao KRS (2006) Lack of carriers of Citrullinaemia and DUMPS in Indian Holstein cattle. J Appl Genet Vol. 47 (3): P. 239-242
19. Rahimi G, Nejati-Javaremi A, Olek K (2006) Genotyping BLAD, DUMPS and – CSN loci in Holstein young bulls of the National Animal Breeding Center of Iran. Pakistan J Biol Sci, Vol. 9 (7): P. 1389-1392
1. Shuster D.E., Kehrli M.E., Ackerman M.R., Gilbert R.O. Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle //Proceeding of the National Academy of Sciences. -1992.- Vol. 89, No.19.- P. 9225-9229
2. Agerholm J.S., Bendixen C., Andersen O., Arnbjerg J. Complex vertebral malformation in Holstein calves//J Vet Diagn Invest. -2001. - Vol. 13, No.4.- P. 283-289
3. Robinson J.L., Drabik M.R., Dombrowski D.B., Clark J.H. Consequences of UMP synthase deficiency in cattle // Proc. Nati. Acad. Sci. USA. -1986. Vol. 80, No.2.-P. 321-323
4. Harper P.A., Healy P.J., Dennis J.A., O’Brien J.J., Rayward D.H. Citrullinaemia as a cause of death in neonatal Friesian calves //Aust Vet J. -1986.- Vol. 63, No.11.-P. 378-379
5. Schwenger B., Tammen I., Aurich C. Detection of homozygous recessive genotype for deficiency of uridine monophosphate synthase by DNA typing among bovine embryos produced in vitro //J Reprod Fertil. -1994.- Vol. 100.- P. 511-514
6. Poli M.A., Dewey R., Semorile L., Lozano M.E., Albariño C.G., Romanowski V., Grau O. PCR screening for carriers of bovine leukocyte adhesion deficiency (BLAD) and uridine monophosphate synthase (DUMPS) in Argentine Holstein cattle //Zentraibi Veterinaermed A.- 1996. -Vol. 43. No.3.- P. 163-168
7. Dennis J.A., Heally P.J., Beaduet A.L., Obrien W.F. Molecular definition of Bovine Argininosuccinate synthetase deficiency //Proceeding of Natl Acad Sci USA.- 1989.- Vol. 86, No.20. - P. 7947-7951
8. Healy P.J., Dennis J.A., Camilleri L.M., Robinson J.L., Stell A.L., Shanks R.D. Bovine citrullinaemia traced to the sire of Linmack Kriss King // Aus Vet J. -1991.- Vol. 68, No.4.- P. 155
9. Robinson J.L., Popp R.G., Shanks R.D., Oosterhof A., Veerkamp J.H. Testing for deficiency of uridine monophosphate synthase among Holstein Friesian cattle of North America and Europe // Livest Prod Sci. -1993.-Vol. 36. - P. 287-298
10. Kaminski S., Grzybowsk G., Prusak B., Rure A. No incidence of DUMPS carriers in Polish dairy cattle // J Appl Genet. -2005. Vol. 46, No.4.- P. 395-397
11. Bahnak B.R., Wu Q.Y., Coulombel L., Drouet L., Kerbiriou-Nabias D., Meyer D. A single and efficient method for isolating high molecular weight DNA from mammalian sperm // NAR.-1988.-Vol. 16, No. 3.- P. 1208.
12. Erlich H.A., Gelfand D., Sninsky J.J. Recent advances in the polymerase chain reaction //Science.-1991.- Vol. 252.- P. 1643-1651
13. Huang M.M., Arnheim N., Goodman M.F., Extension of base mispairs by Taq DNA polymerase: implications for single nucleotide discrimination in PCR //NAR.-1992.- Vol. 20, No.17.- P. 4567–4573
14. Усенбеков Е.С., Альпейсов Ш.А., Жансеркенова О.О., Касымбекова Ш.Н. Применение полимеразной цепной реакции для выявления точечной мутации у быков-производителей //Журнал «Ізденістер, Результаты». -2013. № 3.- С. 79-86
15. Grupe S., Diet G., Schwerin M. Population survey of citrullinemia on German Holsteins //Livestock Prod Sci. -1996.-Vol. 45, No. 1.-P. 35-38
16. Zhang Y., Xuehua F., Dongxiao S., Yachun W., Ying Y., Yan X., Shengli Z., Yuan Z.Z. A novel method for rapid and reliable detection of complex vertebral malformation and bovine leukocyte adhesion deficiency in Holstein cattle //J Anim Sci Biotechnol. -2012.-Vol. 3, No.1.-P. 24-30
17. Meydan H., Uğurlu M., Yildiz M.A. Monitoring of BLAD, DUMPS, CVM, BC and FXID in Turkish Native Cattle Breeds // Journal of Agricultural Sciences. -2012.-Vol. 18.- P. 239-245
18. Patel R.K., Singh K.M., Soni K.J., Chauhan J.B., Sambasiva Rao K.R.S. Lack of carriers of Citrullinaemia and DUMPS in Indian Holstein cattle // J Appl Genet. – 2006.-Vol. 47, No.3.- P. 239-242
19. Rahimi G., Nejati-Javaremi A., Olek K. Genotyping BLAD, DUMPS and – CSN loci in Holstein young bulls of the National Animal Breeding Center of Iran //Pakistan J Biol Sci. -2006.- Vol. 9, No.7.- P. 1389-1392
References
1. Shuster DE, Kehrli ME, Ackerman MR, Gilbert RO (1992) Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle. Proceeding of the National Academy of Sciences Vol. 89 (19): P. 9225-9229
2. Agerholm JS, Bendixen C, Andersen O, Arnbjerg J (2001) Complex vertebral malformation in Holstein calves. J Vet Diagn Invest Vol. 13 (4): P. 283-289
3. Robinson JL, Drabik MR, Dombrowski DB, Clark JH (1986) Consequences of UMP synthase deficiency in cattle. Proc. Nati. Acad. Sci. USA Vol. 80 (2), 321-323
4. Harper PA, Healy PJ, Dennis JA, O’Brien JJ, Rayward DH (1986) Citrullinaemia as a cause of death in neonatal Friesian calves. Aust Vet J, Vol. 63 (11): P. 378-379
5. Schwenger B, Tammen I, Aurich C (1994) Detection of homozygous recessive genotype for deficiency of uridine monophosphate synthase by DNA typing among bovine embryos produced in vitro. J Reprod Fertil. Vol. 100: P. 511-514
6. Poli MA, Dewey R, Semorile L, Lozano ME, Albariño CG, Romanowski V, Grau O (1996) PCR screening for carriers of bovine leukocyte adhesion deficiency (BLAD) and uridine monophosphate synthase (DUMPS) in Argentine Holstein cattle. Zentraibi Veterinaermed A Vol. 43 (3): P. 163-168
7. Dennis JA, Heally PJ, Beaduet AL, O’brien WF (1989) Molecular definition of Bovine Argininosuccinate synthetase deficiency. Proceeding of Natl Acad Sci USA, Vol. 86 (20): P. 7947-7951
8. Healy PJ, Dennis JA, Camilleri LM, Robinson JL, Stell AL, Shanks RD (1991) Bovine citrullinaemia traced to the sire of Linmack Kriss King. Aus Vet J, Vol. 68 (4): P. 155
9. Robinson JL, Popp RG, Shanks RD, Oosterhof A, Veerkamp JH (1993) Testing for deficiency of uridine monophosphate synthase among Holstein Friesian cattle of North America and Europe. Livest Prod Sci Vol. 36: P. 287-298
10. Kaminski S, Grzybowsk G, Prusak B, Rure A (2005) No incidence of DUMPS carriers in Polish dairy cattle. J Appl Genet Vol. 46 (4): P. 395-397
11. B.R.Bahnak, Q.Y.Wu, L.Coulombel, L.Drouet, D.Kerbiriou-Nabias and D.Meyer (1988) A single and efficient method for isolating high molecular weight DNA from mammalian sperm.// NAR Vol. 16 (3): P. 1208.
12. Erlich, HA, Gelfand D, Sninsky JJ (1991) Recent advances in the polymerase chain reaction. Science, Vol. 252: P. 1643-1651
13. Huang MM, Arnheim N, Goodman MF (1992) Extension of base mispairs by Taq DNA polymerase: implications for single nucleotide discrimination in PCR. NAR Vol. 20 (17): P. 4567–4573
14. Usenbekov ES, Alpejsov ShA, Zhanserkenova OO, Kasymbekova ShN (2013) The use of polymerase chain reaction for the detection of point mutations in bulls. Journal Іzdenіster, results [Primenenie polimeraznoj cepnoj reakcii dlja vyjavlenija tochechnoj mutacii u bykov-proizvoditelej. Zhurnal Іzdenіster, Rezultaty] 3: 79-86. (In Russian)
15. Grupe S, Diet G, Schwerin M (1996) Population survey of citrullinemia on German Holsteins. Livestock Prod Sci, Vol. 45 (1): P. 35-38
16. Zhang Yi , Xuehua Fan, Dongxiao Sun, Yachun Wang, Ying Yu, Yan Xie, Shengli Zhang and Yuan Zhang Zhang (2012). A novel method for rapid and reliable detection of complex vertebral malformation and bovine leukocyte adhesion deficiency in Holstein cattle. J Anim Sci Biotechnol Vol. 3 (1): P. 24-30
17. Meydan H, Uğurlu M, Yildiz MA (2012) Monitoring of BLAD, DUMPS, CVM, BC and FXID in Turkish Native Cattle Breeds. Journal of Agricultural Sciences. Vol. 18: P. 239-245
18. Patel RK, Singh KM, Soni KJ, Chauhan JB, Sambasiva Rao KRS (2006) Lack of carriers of Citrullinaemia and DUMPS in Indian Holstein cattle. J Appl Genet Vol. 47 (3): P. 239-242
19. Rahimi G, Nejati-Javaremi A, Olek K (2006) Genotyping BLAD, DUMPS and – CSN loci in Holstein young bulls of the National Animal Breeding Center of Iran. Pakistan J Biol Sci, Vol. 9 (7): P. 1389-1392
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Ussenbekov, Y. S., Yakovlev, A. F., & Akimzhan, N. A. (2016). Results of monitoring bulls carrier genetic defects. Experimental Biology, 67(2), 128–139. Retrieved from https://bb.kaznu.kz/index.php/biology/article/view/1188
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МOLECULAR BIOLOGY AND GENETICS
