Ma. Poli et al., PCR SCREENING FOR CARRIERS OF BOVINE LEUKOCYTE ADHESION DEFICIENCY (BLAD) AND URIDINE MONOPHOSPHATE SYNTHASE (DUMPS) IN ARGENTINE HOLSTEIN CATTLE, Journal of veterinary medicine. Series A, 43(3), 1996, pp. 163-168
BLAD (Bovine Leukocyte Adhesion Deficiency) and DUMPS (Deficiency of U
ridine Monophosphate Synthase) are monogenic autosomal, recessive inhe
rited diseases of Holstein cattle. Single nucleotide changes (point mu
tations) responsible for the genetic disorders were detected by polyme
rase chain reaction coupled with restriction fragment length polymorph
ism assays (PCR-RFLP). Using oligonucleotide primers, DNA fragments of
predicted sizes were amplified, and the products' specificity was ass
essed 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 (Tag I, Hae III for BLAD,
Ava I for DUMPS). The test included 104 bulls and 950 cows of Argenti
nean 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.