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

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