Inheritance of UMP synthase in dairy cattle

The inheritance of uridine-5'-monophosphate (UMP) synthase in dairy cattle was consistent with a two-allele, single-autosomal-locus model. Two phenotypes were associated with different levels of the enzyme in bovine erythrocytes. The predominant phenotype (assumed normal) had twice the concentration of UMP synthase as the second phenotype (deficient). A one-to-one correspondence between enzyme level and genotype identified one homozygote as normal, the heterozygote as deficient, and the other homozygote as unobserved. Three alternative hypotheses were rejected. The deficiency as homozygous recessive was rejected because 20 matings between assumed normal males and deficient females resulted in 10 normal and 10 deficient offspring. The hypothesis that the deficiency was homozygous dominant was rejected because the 95 percent confidence interval about the observed gene frequency, 0.0024 to 0.0146, did not contain the estimated gene frequency for equilibrium between an average 10(-5) mutation rate and selection against the deficiency as homozygous dominant. Analyses of female relatives implicated one bull as deficient (96 percent probability), as he had, independently, 2 deficient daughters, 5 deficient granddaughters from untested dams, and 3 deficient great-granddaughters from untested ancestors. The hypothesis that the deficiency was sex-linked was rejected because 3 of 9 tested sons of the putative deficient bull were deficient. Calf mortality is expected in 25 percent of matings between deficient animals.