The use of a limited number of sire bulls contributes to accumulation of recessive lethal alleles causing fatal diseases in cattle populations. Thus, deficiency of uridine monophosphate synthase (DUMPS), a bovine monogenic autosomal recessive disease causing early embryonic death of homozygous offspring, and syndactyly (MF), a partial or complete fusion of the fingers of one or more limbs, are assigned to them. The research study was focused on both developing the domestic PCR test systems for diagnosing MF (n = 439) and DUMPS (n = 477) mutations in cattle and screening to detect carriage of the other genetic diseases including factor XI deficiency (FXID, n = 614), brachyspina syndrome (BY, n = 621), citrullinemia (BC, n = 272), Holstein haplotype for cholesterol deficiency (HCD, n = 547), complex vertebral malformation (CVM, n = 435), bovine leukocyte adhesion deficiency (BLAD, n = 361), Holstein haplotype 1 (HH1, n = 301), Holstein haplotype 3 (HH3, n = 360), Holstein haplotype 4 (HH4, n = 60), Holstein haplotype 5 (НН5, n = 392), Holstein haplotype 6 (HH6, n = 517), and Holstein haplotype 7 (НН7, n = 502). Screening to detect mutation carriage was performed in cow populations in the Sverdlovskaya, Perm, Smolensk, and Kirov oblasts and the Udmurt Republic. The developed diagnostic kits included the sets of primers and probes providing the opportunity to reveal mutations with the real-time PCR. No animal with the mutant DUMPS alleles was detected over the test period. One MF carrier was detected, which comprises 0.23% of the total test livestock. The most frequently occurred fertility haplotypes were BLAD—2.8%, HCD—2.6%, and HH1—1.7%. The carriers of FXID, BY, CVM, HH5, HH6, and HH7, comprising 0.6%, 0.8%, 1.4%, 1.5%, 0.8%, and 1.6%, respectively, were detected. Any carriers of BC, HH3, and HH4 were not detected. The real-time PCR systems available to detect sublethal and lethal genetic mutations in dairy cattle can provide the opportunity to perform the rapid, timely, and affordable diagnostics.
Bytov et al. (Fri,) studied this question.