title: PCR screening for carriers of bovine leukocyte adhesion deficiency (BLAD) and uridine monophosphate synthase (DUMPS) in Argentine Holstein cattle.
abstract: BLAD (Bovine Leukocyte Adhesion Deficiency) and DUMPS (Deficiency of Uridine Monophosphate Synthase) are monogenic autosomal, recessive inherited diseases of Holstein cattle. Single nucleotide changes (point mutations) responsible for the genetic disorders were detected by polymerase chain reaction coupled with restriction fragment length polymorphism assays (PCR-RFLP). Using oligonucleotide primers, DNA fragments of predicted sizes were amplified, and the products' specificity was assessed by nucleotide sequencing. Mutations were detected in DNA samples from bovine blood and semen by the presence or absence of restriction sites within the PCR amplification products (Taq I, Hae III for BLAD, Ava I for DUMPS). The test included 104 bulls and 950 cows of Argentinean Holstein breed. Defective alleles frequencies were as follows: 2.88% BLAD in bulls used in artificial insemination, 1.79% in cows; 0.96% DUMPS in bulls and 0.11% in cows.
authors.affiliation: Instituto de Genética 'Ewald Favret', CICA-INTA, Castelar, Argentina.
authors.forename: M A
authors.initials: MA
authors.lastname: Poli
authors.forename: R
authors.initials: R
authors.lastname: Dewey
authors.forename: L
authors.initials: L
authors.lastname: Semorile
authors.forename: M E
authors.initials: ME
authors.lastname: Lozano
authors.forename: C G
authors.initials: CG
authors.lastname: Albariño
authors.forename: V
authors.initials: V
authors.lastname: Romanowski
authors.forename: O
authors.initials: O
authors.lastname: Grau
mesh_terms: D000818:Animals; D001118:Argentina / Q000453:epidemiology; D002417:Cattle; D002418:Cattle Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*; D008297:Male; D008403:Mass Screening / Q000379:methods / Q000662:veterinary*; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000235:genetics; D009962:Orotate Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000172:deficiency* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods / Q000662:veterinary*; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence
chemical_list: D009097:Multienzyme Complexes; C027157:uridine 5'-monophosphate synthase; D004247:DNA; D009962:Orotate Phosphoribosyltransferase; D009964:Orotidine-5'-Phosphate Decarboxylase