REVISTA BRASILEIRA DE ZOOTECNIA, vol.53, pp.1-12, 2024 (SCI-Expanded)
This study aimed to optimize a reliable and rapid genotyping assay
to detect the carriers of bovine citrullinemia (BC), bovine leukocyte adhesion
deficiency (BLAD), complex vertebral malformation (CVM), and deficiency of uridine
monophosphate synthase (DUMPS) in cattle populations. We developed real-time
polymerase chain reaction (RT-PCR)-based assays to distinguish wild-type and defective
alleles of BLAD, CVM, BC, and DUMPS. Twenty-four bulls in the International Center for
Livestock Research and Training were genotyped. At the same time, genotyping was
performed for DUMPS and BC using PCR-RFLP, and sequencing was performed for all
diseases and compared with the RT-PCR kit we developed. None of the bulls carried
mutant alleles of these hereditary autosomal recessive lethal defects. It takes only
2 h for the assay to be completed, including DNA extraction from the sample. These
consequences indicate that RT-PCR is an easy, reliable, and rapid method for detecting
BLAD, CVM, BC, and DUMPS carriers. Studies show a high frequency of mutant alleles
of these genetic defects that cause genetic diseases, and this requires routine test
systems to eradicate genetic diseases of economic importance.