An autosomal recessive defect caused by a loss of function mutation in the bovine apolipoprotein B (APOB) gene causes cholesterol deficiency with strong effects on calf survival and development. This study examined the distribution of cholesterol deficiency haplotype (CDH) in the APOB gene in Canadian Holstein cows and its impacts on milk production and milk cholesterol content. The CDH in 917 cows from 29 herds was determined via polymerase chain reaction (PCR). A longer insertion of approximately 7 kb potentially characterizing the mutation was amplified. The average carrier frequency of herds in Quebec based on PCR results was 14.6%. Cholesterol deficiency haplotype status had non-significant (P > 0.05) effects on milk cholesterol content, other milk components, and milk yield.
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