Результаты мониторинга быков-производителей на носительство генетических дефектов
Ключевые слова:
PCR, RFLP, Real-Time PCR SNPs диагностика, аутосомальная рецессивная точечная мутация, BLAD, CVM, DUMPS, BC, быки-производители.Аннотация
В статье приводятся сведения о частоте встречаемости аутосомальных рецессивных летальных мутаций – дефицита адгезии лейкоцитов (BLAD), комплексного уродства позвоночника (CVM), дефицита фермента уридин-моно-фосфат-синтетазы (DUMPS) и цитруленемии (BC) у племенных быков-производитедей АО «Асыл-Тулик» (N=67) и ТОО «Асыл» (N=43) отечественной и зарубежной селекции. Известно, что частота аллелей вредных мутации высокая у крупного рогатого скота голштинской породы, у некоторых локальных пород скота распространенность этих мутации низкая или вообще отсутствуют. Детекция летальной мутации генов CD 18, SLC35A3, UMP и ASS у быков-производителей (N=110) проводилась методом PCR-RFLP анализа и Real-Time PCR SNPs диагностики. Установлено, что племенные быки местных пород: Алатауской, Аулиекольской и Казахской белоголовой свободны от носительства вредных мутации - BLAD, CVM, DUMPS и BC. Два факта гетерозиготного носительства CVM были выявлены у быков голштинской и герефордской пород и один случай гетерозиготного носительства BLAD у животного голштинской породы зарубежной селекции. Разработанный метод диагностики позволяет в течение двух часов точно определить здоровых гомозиготных животных и гетерозиготных носителей мутации. Авторами работы впервые использована методика Real-Time PCR SNPs диагностики для выявления генетического дефекта DUMPS.Библиографические ссылки
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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МОЛЕКУЛЯРНАЯ БИОЛОГИЯ И ГЕНЕТИКА
