Investigation of Some Autosomal Recessive Inherited Diseases (BLAD, DUMPS, CVM, and FXID) in Holstein Cattle

Year 2023, Volume: 63 Issue: 2, 87 - 91, 31.12.2023

Döne Türkmen Eymen Demir Ümit Bilginer Taki Karslı

https://doi.org/10.46897/livestockstudies.1418172

Abstract

Genetic disorders are often transmitted via autosomal recessive inheritance, which negatively affect health, welfare, and yield traits in farm animals such as cattle. In this study, a total of 80 animals belonging to Holstein Friesian (HF) reared in the dairy farm of Akdeniz University were investigated in terms of Bovine Leukocyte Adhesion Deficieny (BLAD), Deficiency of Uridine Monophosphate Synthase (DUMPS), Factor XI Deficiency (FXID), and Complex Vertebral Malformation (CVM) via three molecular genotyping methods such as Polymerase Chain Reaction (PCR), PCR-Restriction Fragment Length Polymorphism (PCR-RFLP), and Allele-Sprcific PCR (AS-PCR). BLAD and DUMPS were analysed by PCR-RFLP, while PCR and AS-PCR were utilized to investigate FXID and CVM disorders, respectively. Based on fragment patterns on agarose gel electrophoresis, animals were genotyped as normal, mutant, and carrier. In this study, no carrier or mutant animals were detected for BLAD, CVM, DUMPS, and FXID diseases in HF cattle, since these animals were previously imported from disease-free dairy farms located in different provinces of Türkiye. Nevertheless, this population should be periodically checked for autosomal genetic disorders, since inherited diseases may be observed in the next generations due to causative mutations in the related genomic regions.

Keywords

Causative mutations, Genetic disorders, Genotyping, Molecular diagnosis, Malformation

References

• Ağaoğlu, Ö. K., Ağaoğlu, A. R., & Saatci, M. (2015). Estimating allele frequencies of some hereditary diseases in Holstein cattlereared in Burdur Province, Türkiye. Turkish Journal of Veterinary & Animal Sciences, 39(3), 338-342. doi: 10.3906/vet-1412-13
• Akyuz, B., Sariozkan, S., & Bayram, D. (2015). The prevalence of BLAD and comparison of some production parameters in carrier and non-carrier Holstein cows in Kayseri province, Türkiye. Journal of Faculty of Veterinary Medicine, Erciyes University/Erciyes Üniversitesi Veteriner Fakültesi Dergisi, 12(1), 31-35.
• Avanus, K., & Altinel, A. (2017). Inherited diseases of Holstein cattle: Story so far in Turkey. Journal of Istanbul Veterinary Sciences, 1(2), 40-46. doi:10.30704/http-www-jivs-net.324403
• Citek, J., & Blahova, B. (2004). Recessive disorders-a serious health hazard?. Journal of Applied Biomedicine, 2, 187-194. doi:10.32725/jab.2004.022
• Citek, J., Rehout, V., Hajkova, J., & Pavkova, J. (2006). Monitoring of the genetic health of cattle in the Czech Republic. Veterinární Medicína Czech; 51(6): 333–339. doi: 10.17221/5553-vetmed
• Citek, J., Rehout, V., Vecerek, L., & Hajkova, J. (2007). Genotyping glycogen storage disease type II and type V in cattle reared in the Czech Republic. Journal of Veterinary Medicine, 54, 257-259. doi: 10.1111/j.1439-0442.2007.00931.x
• Demir, E., & Balcioğlu, M. S. (2019). Genetic diversity and population structure of four cattle breeds raised in Turkey using microsatellite markers. Czech Journal of Animal Science, 64(10), 411-419. doi: 10.17221/62/2019-cjas
• Demir, E., Bilginer, U., Balcioglu, M. S., & Karsli, T. (2021). Direct and indirect contributions of molecular genetics to farm animal welfare: a review. Animal Health Research Reviews, 22(2), 177-186. doi: 10.1017/S1466252321000104
• Demir, E., Moravčíková, N., Kaya, S., Kasarda, R., Doğru, H., Bilginer, Ü., Balcioglu, M.S., & Karsli, T. (2023). Genome-wide genetic variation and population structure of native and cosmopolitan cattle breeds reared in Türkiye. Animal Biotechnology, 1-10. doı: 10.1080/10495398.2023.2235600
• Eren, M. G., Balcioğlu, M. S., & Demir, E. (2019). Detection of complex vertebral malformation in Holstein cattle reared in Antalya using allele spesific PCR. Mediterranean Agricultural Sciences 32(3): 443-446 doi:10.29136/mediterranean.578015
• FAO, FAOSTAT, (2022). Food and Agriculture data, Crops and livestock products, https://www.fao.org/faostat/en/#data/QCL, Date of access: 03.06. 2022
• Gentile, A., & Testoni, S. (2006). Inherited disorders of cattle. Slovenian Veterinary Research, 43(1), 17-29.
• Gozdek, M., Kolenda, M., Kamola, D., & Sitkowska, B. (2020). Report on the incidence of hereditary disorders (BLAD, DUMPS) in the Polish population of Holstein-Friesian cattle, Acta Scientiarum Polonorum. Zootechnica, 19(3),15-22. doi:10.21005/asp.2020.19.3.02
• Karslı, T., Sahin, E., Karslı, B.A., Alkan, S., Balcıoglu, M.S. (2011). Identification of alleles for factor XI (FXID) and uridine monophosphate synthase (DUMPS) deficiencies in Holstein cows reared in Antalya. Kafkas Universitesi Veteriner Fakultesi Dergisi 17, 503–505.
• Kaya, M., Meydan, H., Kiyma, Z., Alan, M., & Yildiz, M. A. (2016). Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, bovine citrullinaemia and factor XI deficiency in Holstein cattle. Indian Journal of Animal Sciences, 86(8), 900-903.
• Kulaklı, G. N., & Akyüz, B. (2011). Kayseri bölgesinde yetiştirilen Holştayn sığırlarında kompleks vertebral malformasyon hastalığı geninin allel frekansının belirlenmesi. Erciyes Üniversitesi Veteriner Fakültesi Dergisi, 8(2), 69-74.
• Kunieda, T. (2005). Identification of genes responsible for hereditary diseases in Japanese beef cattle. Animal Science Journal, 76, 525–533. https://doi.org/10.1111/j.1740-0929.2005.00300.x
• Meydan, H., Yildiz, M. A., & Agerholm, J. S. (2010). Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Türkiye. Acta Veterinaria Scandinavica, 52, 1-8. doi: 10.1186/1751-0147-52-56.
• Miller, S., Dykes, D., & Plesky, H.A. (1988). Simple salting out procedure for extracting DNA from human cells. Nucleic Acids Research, 16: 1215. doi: 10.1093/nar/16.3.1215.
• Nagahata, H. (2004). Bovine leukocyte adhesion deficiency (BLAD): a review. Journal of Veterinary Medical Science, 66(12), 1475-1482. doi: 10.1292/jvms.66.1475
• Patel, R.K., & Patel, A.K. (2014). Comparative review of recessive genetic disorders occurrence in Indian Cattle. Current Trends in Biotechnology and Pharmacy, 8(3), 321-335.
• Şahin, E., Karsli, T., Galiç, A., & Balcioǧlu, M.S. (2013). Identification of bovine leukocyte adhesion deficiency (BLAD) and bovine citrullinaemia (BC) alleles in Holstein cows reared in Antalya region. Journal of Applied Animal Research, 41(1): 56-60. doi:10.1080/09712119.2012.738221
• Schwenger, B., Tammen, I., Aurich, C. (1993). Detection of homozygous recessive genotype for deficiency of uridine monophosphate synthase by DNA typing among bovine embryos produced in vitro. Journal of Reproduction & Infertility, 100, 511–514. doi: 10.1530/jrf.0.1000511.
• Shuster, D.E, Kehrli, M., Ackermann, M.R., & Gilbert, R. (1992). Identification and prevalalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle. Proceedings of the National Academy of Sciences, 89, 9225-9229. doi: 10.1073/pnas.89.19.9225
• Sun, D. X., Fan, X.H., Xie, Y., Chu, Q., Sun, Y., Zhang, Y., & Shi, W. H. (2011). Distribution of recessive genetic defect carriers in Chinese Holstein. Journal of dairy science, 94(11), 5695-5698. doi: 10.3168/jds.2011-4345.
• TUIK, 2022a, Türkiye İstatistik Kurumu, Çiğ Süt Üretim İstatistikleri 2020-2021, https://data.tuik.gov.tr/Bulten/Index?p=Cig-Sut-Uretim-Istatistikleri-2020-2021-45861, Date of Access: 03.06. 2022.
• TUIK, 2022b, Türkiye İstatistik Kurumu, İstatistik Tablolar, Hayvansal Üretim İstatistikleri (Yıllık), Büyükbaş Hayvan Sayıları, https://data.tuik.gov.tr/Bulten/Index?p=Hayvansal-Uretim-Istatistikleri-Aralik-2021-45593, Date of Access: 03.06. 2022.
• TUIK, 2022c, Türkiye İstatistik Kurumu, Kırmızı Et Üretim İstatistikleri 2020-2021, https://data.tuik.gov.tr/Bulten/Index?p=Kirmizi-Et-Uretim-Istatistikleri-2020-2021-45671, Date of Access: 03.06. 2022.
• Virgen-Méndez, A., Ayala-Valdovinos, M.A., Galindo-García, J., Sánchez-Chiprés, D.R., Lemus-Flores, C., & Duifhuis-Rivera, T. (2019). Carrier frequency of autosomal recessive disorders (BC, BLAD, FXID and CVM) in Holstein cows in Jalisco, Mexico. Pesquisa Veterinária Brasileira, 39, 481-484. doi: 10.1590/1678-5150-PVB-6202
• Wang, C., Tong, Q., Hu, X. Z., Yang, L. G., Zhong, X. Q., Yu, Y., Wu, J.J., Liu, W.J., Li, X., Hua, G.H., Zhao, H.Q., & Zhang, S. J. (2011). Identification of complex vertebral malformation carriers in Holstein cattle in south China. Genetics and Molecular Research, 10(4), 2443-2448. doi:10.4238/2011.October.13.1.
• Windsor, P.A., & Agerholm, J.S. (2009). Inherited diseases of Australian Holstein-Friesian cattle. Australian Veterinary Journal, 87, 193–199. doi: 10.1111/j.1751-0813.2009.00422.x.
• Zhang, K., Wang, Z., & Wang, Q. (2010). Detecting factor XI deficiency in Holstein cattle using PCR analysis. Agricultural Science & Technology-Hunan, 11(5), 109-111.