vetpressАграрная наукаAgrarian science0869-81552686-701XРедакция журнала "Аграрная наука"10.32634/0869-8155-2025-392-03-62-68vetpress-3513Research ArticleЗООТЕХНИЯZOOTECHNICSГаплотипы фертильности маточного поголовья крупного рогатого скота в Cвердловской областиFertility haplotypes of the breeding stock of cattle in the Sverdlovsk regionhttps://orcid.org/0000-0002-5976-6030ЛиходеевскаяО. Е.LihodeevskayaO. E.

Лиходеевская Оксана Евгеньевна - кандидат биологических наук, доцент, заведующая лабораторией молекулярных и биологических исследований.

ул. Карла Либкнехта, 42, Екатеринбург, 620075

Oksana E. Lihodeevskaya - Candidate of Science in Biology, Associate Professor, Head of the Laboratory of Molecular and Biological Research.

42 Karl Liebknecht Str., Yekaterinburg, 620075

lixodeevskaya@mail.ruhttps://orcid.org/0000-0003-2616-2166ЛиходеевскийГ. А.LihodeevskiyG. A.

Лиходеевский Георгий Александрович - младший научный сотрудник.

ул. Карла Либкнехта, 42, Екатеринбург, 620075

Georgiy A. Lihodeevskiy - Junior Researcher.

42 Karl Liebknecht Str., Yekaterinburg, 620075

georglihodey@gmail.comhttps://orcid.org/0000-0002-6584-2394БогатоваП. С.BogatovaP. S.

Богатова Полина Сергеевна - младший научный сотрудник.

ул. Карла Либкнехта, 42, Екатеринбург, 620075

Polina S. Bogatova - Junior Researcher.

42 Karl Liebknecht Str., Yekaterinburg, 620075

bogatova.p.s@gmail.comУральский государственный аграрный университетРоссияUral State Agrarian UniversityRussian Federation202521032025036268Copyright © Лиходеевская О.Е., Лиходеевский Г.А., Богатова П.С., 20252025Лиходеевская О.Е., Лиходеевский Г.А., Богатова П.С.Lihodeevskaya O.E., Lihodeevskiy G.A., Bogatova P.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.vetpress.ru/jour/article/view/3513

Выявление летальных и нежелательных мутаций в популяциях маточного поголовья черно-пестрого скота остается актуальным, несмотря на то что быки-производители исследуются на широкий спектр известных генетических аномалий. Впервые в Свердловской области началось исследование маточного поголовья крупного рогатого скота молочного направления продуктивности на носительство летальных генов. Для исследования были отобраны по 48 половозрастных коров 2008–2013 годов рождения из четырех племенных организаций области. Генотипирование отобранных особей проводили на чипах GGP Bovine 150K. Проведенное генотипирование маточного поголовья подтвердило сохранение в стадах в скрытом состоянии мутантных форм аллелей генов CD18, APAF1, SDC2 и GART, вызывающих синдромы BLAD и гаплотипы фертильности HH1, HH3 и HH4 соответственно. Особей — носительниц патологии синдактилии, цитруллинемии и DUMPS обнаружено не было. Наибольшая доля гетерозиготных особей принадлежит летали HH1 (7%), доли носительства других мутаций не превышают 4%. По сельскохозяйственным организациям носительство распределено неравномерно в связи с индивидуальным подходом отдельного хозяйства к приобретению семени в племенных организациях по искусственному осеменению сельскохозяйственных животных. С помощью статистического анализа определены пять быков-производителей — носителей летальных аллелей, генеалогическим методом продемонстрирована высокая вероятность носительства мутаций для трех из них. Несмотря на выбытие быков-носителей, летальные формы гена могут сохраняться в поголовье за счет гетерозиготных коров. Полученные результаты демонстрируют широкую распространенность носительства исследуемых аллелей в большинстве генеалогических линий быков голштинского происхождения.

The detection of lethal and undesirable mutations in maternal Black Pied cattle populations remains relevant, despite bulls being routinely screened for a wide range of known genetic anomalies. For the first time in Sverdlovsk Oblast, a study has been initiated to investigate the carriage of lethal genes in dairy-oriented maternal cattle. For the study, 48 sexually mature cows born between 2008 and 2013 were selected from four breeding organizations in the region. Genotyping of the sampled individuals was performed using GGP Bovine 150K chips. The genotyping confirmed the latent persistence of mutant allele forms of the CD18, APAF1, SDC2, and GART genes in the herds, which cause BLAD syndrome and fertility haplotypes HH1, HH3, and HH4, respectively. No carriers of syndactyly, citrullinemia, or DUMPS pathologies were identified. The highest proportion of heterozygous individuals was associated with the lethal HH1 haplotype (7%), while the carriage rates for other mutations did not exceed 4%. The distribution of carriers across agricultural enterprises was uneven, reflecting individual farm practices in sourcing semen from breeding organizations for artificial insemination. Statistical analysis identified five carrier bulls with lethal alleles, and genealogical methods demonstrated a high probability of mutation carriage for three of them. Despite the removal of carrier bulls, lethal gene forms may persist in the population through heterozygous cows. The results highlight the widespread prevalence of the studied alleles across most genealogical lines of Holstein-origin bulls.

генетические маркерыгаплотипы фертильностикрупный рогатый скотселекцияgenetic markersfertility haplotypescattlebreedingИсследование выполнено при финансовой поддержке Российского научного фонда № 23-26-00260. https://rscf.ru/project/23-26-00260/The research was carried out with the financial support of the Russian Science Foundation No. 23-26-00260. https://rscf.ru/project/23-26-00260/ReferencesЗиновьева Н.А. Гаплотипы фертильности голштинского скота. Сельскохозяйственная биология. 2016; 51(4): 423–435. https://doi.org/10.15389/agrobiology.2016.4.423rusZinovieva N.A. Haplotypes affecting fertility in Holstein cattle. Agricultural Biology. 2016; 51(4): 423–435. https://doi.org/10.15389/agrobiology.2016.4.423engKehrli M.E. Jr. et al. Molecular definition of the bovine granulocytopathy syndrome: Identification of deficiency of the Mac-1 (CD11b/CD18) glycoprotein. American Journal of Veterinary Research. 1990; 51(11): 1826–1836. https://doi.org/10.2460/ajvr.1990.51.11.1826Kehrli M.E. Jr. et al. Molecular definition of the bovine granulocytopathy syndrome: Identification of deficiency of the Mac-1 (CD11b/CD18) glycoprotein. American Journal of Veterinary Research. 1990; 51(11): 1826–1836. https://doi.org/10.2460/ajvr.1990.51.11.1826Tammen I. et al. An improved DNA test for bovine leucocyte adhesion deficiency. Research in Veterinary Science. 1996; 60(3): 218–221. https://doi.org/10.1016/s0034-5288(96)90042-9Tammen I. et al. An improved DNA test for bovine leucocyte adhesion deficiency. Research in Veterinary Science. 1996; 60(3): 218–221. https://doi.org/10.1016/s0034-5288(96)90042-9Nagahata H. Bovine Leukocyte Adhesion Deficiency (BLAD): A Review. Journal of Veterinary Medical Science. 2004; 66(12): 1475–1482. https://doi.org/10.1292/jvms.66.1475Nagahata H. Bovine Leukocyte Adhesion Deficiency (BLAD): A Review. Journal of Veterinary Medical Science. 2004; 66(12): 1475–1482. https://doi.org/10.1292/jvms.66.1475Ribeiro A.L., Baron E.E., Martinez M.L., Coutinho L.L. PCR screening and allele frequency estimation of bovine leukocyte adhesion deficiency in Holstein and Gir cattle in Brazil. Genetics and Molecular Biology. 2000; 23(4): 831–834. https://doi.org/10.1590/S1415-47572000000400021Ribeiro A.L., Baron E.E., Martinez M.L., Coutinho L.L. PCR screening and allele frequency estimation of bovine leukocyte adhesion deficiency in Holstein and Gir cattle in Brazil. Genetics and Molecular Biology. 2000; 23(4): 831–834. https://doi.org/10.1590/S1415-47572000000400021Lihodeevskaya O.E., Lihodeevskiy G.A., Stepanova V.V. BLAD and CVM in the genetic structure of the cattle breeding stock in the Sverdlovsk region. IOP Conference Series: Earth and Environmental Science. 2021; 677: 042037. https://doi.org/10.1088/1755-1315/677/4/042037Lihodeevskaya O.E., Lihodeevskiy G.A., Stepanova V.V. BLAD and CVM in the genetic structure of the cattle breeding stock in the Sverdlovsk region. IOP Conference Series: Earth and Environmental Science. 2021; 677: 042037. https://doi.org/10.1088/1755-1315/677/4/042037Дементьева Н.В., Митрофанова О.В., Кудинов А.А. Анализ частоты встречаемости трех рецессивных летальных мутаций у коров Ленинградской области. Известия Санкт-Петербургского государственного аграрного университета. 2015; 39: 136–143. https://www.elibrary.ru/uxwmdjDementieva N.V., Mitrofanova O.V., Kudinov A.A. Analysis of frequency of three recessive lethal mutations in cows in Leningrad region. Izvestiya Saint-Petersburg State Agrarian University. 2015; 39: 136–143 (in Russian). https://www.elibrary.ru/uxwmdjШукюрова Е.Б. BLAD-синдром у крупного рогатого скота черно-пестрого корня, разводимого в Хабаровском крае. Евразийский союз ученых. 2014; (8–10): 100–101. https://www.elibrary.ru/xgwwkbShukurova E.B. BLAD-syndrome in black-and-white bred cattle in the Khabarovsk Territory. Eurasian Union of Scientists. 2014; (8–10): 100–101 (in Russian). https://www.elibrary.ru/xgwwkbАхметов Т.М., Тюлькин С.В., Валиуллина Э.Ф. Генотипирование коров по локусам каппа-казеина, бета-лактоглобулина и BLAD-мутации. Ученые записки Казанской государственной академии ветеринарной медицины им. Н.Э. Баумана. 2011; 205: 11–17. https://www.elibrary.ru/oiqlelAkhmetov T.M., Tyulkin S.V., Valiullina E.F. Studying of genotypes cows on loci kappa-casein, beta-lactoglobulin and BLAD-mutation. Scientific notes Kazan Bauman State Academy of Veterinary Medicine. 2011; 205: 11–17 (in Russian). https://www.elibrary.ru/oiqlelКрюков В.И., Шалимова О.А., Друшляк Н.Г., Пикунова А.В. ДНК-диагностика в селекции крупного рогатого скота. Вестник Орловского государственного аграрного университета. 2012; (1): 62–67. https://www.elibrary.ru/pwiuutKryukov V.I., Shalimova O.A., Drushlyak N.G., Pikunova A.V. DNA-diagnostics in cattle breeding. Vestnik OrelGAU. 2012; (1): 62–67 (in Russian). https://www.elibrary.ru/pwiuutKhatib A., Prokhortchouk E., Mazur A.M. The distribution of lethal Holstein haplotypes affecting female fertility among the Russian Black-and-White cattle. EurAsian Journal of BioSciences. 2020; 14(2): 2545–2552. https://www.elibrary.ru/wvdvmwKhatib A., Prokhortchouk E., Mazur A.M. The distribution of lethal Holstein haplotypes affecting female fertility among the Russian Black-and-White cattle. EurAsian Journal of BioSciences. 2020; 14(2): 2545–2552. https://www.elibrary.ru/wvdvmwAdams H.A. et al. Identification of a nonsense mutation in APAF1 that is likely causal for a decrease in reproductive efficiency in Holstein dairy cattle. Journal of Dairy Science. 2016; 99(8): 6693–6701. https://doi.org/10.3168/jds.2015-10517Adams H.A. et al. Identification of a nonsense mutation in APAF1 that is likely causal for a decrease in reproductive efficiency in Holstein dairy cattle. Journal of Dairy Science. 2016; 99(8): 6693–6701. https://doi.org/10.3168/jds.2015-10517De Zio D., Maiani E., Cecconi F. Apaf1 in embryonic development — shaping life by death, and more. International Journal of Developmental Biology. 2015; 59(1–3): 33–39. https://doi.org/10.1387/ijdb.150047ddDe Zio D., Maiani E., Cecconi F. Apaf1 in embryonic development — shaping life by death, and more. International Journal of Developmental Biology. 2015; 59(1–3): 33–39. https://doi.org/10.1387/ijdb.150047ddVanRaden P.M., Olson K.M., Null D.J., Hutchison J.L. Harmful recessive effects on fertility detected by absence of homozygous haplotypes. Journal of Dairy Science. 2011; 94(12): 6153–6161. https://doi.org/10.3168/jds.2011-4624VanRaden P.M., Olson K.M., Null D.J., Hutchison J.L. Harmful recessive effects on fertility detected by absence of homozygous haplotypes. Journal of Dairy Science. 2011; 94(12): 6153–6161. https://doi.org/10.3168/jds.2011-4624McClure M.C. et al. Bovine Exome Sequence Analysis and Targeted SNP Genotyping of Recessive Fertility Defects BH1, HH2, and HH3 Reveal a Putative Causative Mutation in SMC2 for HH3. PLoS ONE. 2014; 9(3): e92769. https://doi.org/10.1371/journal.pone.0092769McClure M.C. et al. Bovine Exome Sequence Analysis and Targeted SNP Genotyping of Recessive Fertility Defects BH1, HH2, and HH3 Reveal a Putative Causative Mutation in SMC2 for HH3. PLoS ONE. 2014; 9(3): e92769. https://doi.org/10.1371/journal.pone.0092769Pausch H. et al. Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle. BMC Genomics. 2015; 16: 312. https://doi.org/10.1186/s12864-015-1483-7Pausch H. et al. Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle. BMC Genomics. 2015; 16: 312. https://doi.org/10.1186/s12864-015-1483-7Schmiesing J.A., Ball A.R. Jr., Gregson H.C., Alderton J.M., Zhou S., Yokomori K. Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics. Proceedings of the National Academy of Sciences. 1998; 95(22): 12906–12911. https://doi.org/10.1073/pnas.95.22.12906Schmiesing J.A., Ball A.R. Jr., Gregson H.C., Alderton J.M., Zhou S., Yokomori K. Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics. Proceedings of the National Academy of Sciences. 1998; 95(22): 12906–12911. https://doi.org/10.1073/pnas.95.22.12906Fritz S. et al. Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2. PLoS ONE. 2013; 8(6): e65550. https://doi.org/10.1371/journal.pone.0065550Fritz S. et al. Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2. PLoS ONE. 2013; 8(6): e65550. https://doi.org/10.1371/journal.pone.0065550Ng A., Uribe R.A., Yieh L., Nuckels R., Gross J.M. Zebrafish mutations in gart and paics identify crucial roles for de novo purine synthesis in vertebrate pigmentation and ocular development. Development. 2009; 136(15): 2601–2611. https://doi.org/10.1242/dev.038315Ng A., Uribe R.A., Yieh L., Nuckels R., Gross J.M. Zebrafish mutations in gart and paics identify crucial roles for de novo purine synthesis in vertebrate pigmentation and ocular development. Development. 2009; 136(15): 2601–2611. https://doi.org/10.1242/dev.038315Romanenkova O.S. et al. The distribution for Lof mutations in the FANCI, APAF1, SMC2, GART, and APOB genes of the Russian Holstein cattle population. Journal of Animal Science. 2017; 95(S4): 83. https://doi.org/10.2527/asasann.2017.168Romanenkova O.S. et al. The distribution for Lof mutations in the FANCI, APAF1, SMC2, GART, and APOB genes of the Russian Holstein cattle population. Journal of Animal Science. 2017; 95(S4): 83. https://doi.org/10.2527/asasann.2017.168Schwenger B., Schöber S., Simon D. DUMPS Cattle Carry a Point Mutation in the Uridine Monophosphate Synthase Gene. Genomics. 1993; 16(1): 241–244. https://doi.org/10.1006/geno.1993.1165Schwenger B., Schöber S., Simon D. DUMPS Cattle Carry a Point Mutation in the Uridine Monophosphate Synthase Gene. Genomics. 1993; 16(1): 241–244. https://doi.org/10.1006/geno.1993.1165Casas E., Kehrli M.E. Jr. A Review of Selected Genes with Known Effects on Performance and Health of Cattle. Frontiers in Veterinary Science. 2016; 3: 113. https://doi.org/10.3389/fvets.2016.00113Casas E., Kehrli M.E. Jr. A Review of Selected Genes with Known Effects on Performance and Health of Cattle. Frontiers in Veterinary Science. 2016; 3: 113. https://doi.org/10.3389/fvets.2016.00113Čítek J., Bláhová B. Recessive disorders — a serious health hazard?. Journal of Applied Biomedicine. 2004; 2(4): 187–194. http://doi.org/10.32725/jab.2004.022Čítek J., Bláhová B. Recessive disorders — a serious health hazard?. Journal of Applied Biomedicine. 2004; 2(4): 187–194. http://doi.org/10.32725/jab.2004.022Dennis J.A., Healy P.J., Beaudet A.L., O’Brien W.E. Molecular definition of bovine argininosuccinate synthetase deficiency. Proceedings of the National Academy of Sciences. 1989; 86(20): 7947–7951. https://doi.org/10.1073/pnas.86.20.7947Dennis J.A., Healy P.J., Beaudet A.L., O’Brien W.E. Molecular definition of bovine argininosuccinate synthetase deficiency. Proceedings of the National Academy of Sciences. 1989; 86(20): 7947–7951. https://doi.org/10.1073/pnas.86.20.7947Healy P.J., Harper P., Dennis J.A. Bovine citrullinaemia: a clinical, pathological, biochemical and genetic study. Australian Veterinary Journal. 1990; 67(7): 255–258. https://doi.org/10.1111/j.1751-0813.1990.tb07780.xHealy P.J., Harper P., Dennis J.A. Bovine citrullinaemia: a clinical, pathological, biochemical and genetic study. Australian Veterinary Journal. 1990; 67(7): 255–258. https://doi.org/10.1111/j.1751-0813.1990.tb07780.xDrögemüller C. et al. Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4). BMC Genetics. 2007; 8: 5. https://doi.org/10.1186/1471-2156-8-5Drögemüller C. et al. Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4). BMC Genetics. 2007; 8: 5. https://doi.org/10.1186/1471-2156-8-5Eager K.L.M. et al. The previously reported LRP4 c. 4940C > T variant is not associated with syndactyly in cattle. Animal Genetics. 2021; 52(3): 380–381. https://doi.org/10.1111/age.13061Eager K.L.M. et al. The previously reported LRP4 c. 4940C > T variant is not associated with syndactyly in cattle. Animal Genetics. 2021; 52(3): 380–381. https://doi.org/10.1111/age.13061Owczarek-Lipska M. et al. A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle. Genomics. 2011; 97(1): 51–57. https://doi.org/10.1016/j.ygeno.2010.09.005Owczarek-Lipska M. et al. A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle. Genomics. 2011; 97(1): 51–57. https://doi.org/10.1016/j.ygeno.2010.09.005König F. et al. Bovine cardiomyopathy, pathomorphogenic and biochemical studies in yearling steers. Schweizer Archiv für Tierheilkunde. 1990; 132: 439–440.König F. et al. Bovine cardiomyopathy, pathomorphogenic and biochemical studies in yearling steers. Schweizer Archiv für Tierheilkunde. 1990; 132: 439–440.

The authors declare that there are no conflicts of interest present.