Novel method for identification of the lethal mutation in bovine APAF1 geneand its preliminary prevalence in Polish Holstein-Friesian bulls

The aim of the study was to develop a reliable and cost-effective method for detection nonsense mutation in APAF1 gene causing lethal effect called HH1 (Holstein Haplotype1) evaluate its prevalence sample Polish Holstein-Friesian bulls. One hundred seventy eight bulls born between 1996 2017 were included analysis. They kept four artificial insemination centers have pedigree known carrier HH1. All diagnosed by novel PCR-SSCP technique. Specific amplicons 261 bp fragment used detect changes single stranded conformation (SSCP) caused C/T responsible Each new trace another potential carriers among their offspring available Holstein Bull Repository Database. Among 178 bulls, 85 found. Our results show that is already transmitted segregating cattle frequency may increase if no action will be undertaken against actual carriers.