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Abstract

CVM ( Complex Vertebral Malformations) and Brachyspina (BY) are the most common autosomal recessive genetic defects occurring in the last two decades in Holstein dairy cattle around the world. Beginning from 2004 and 2014, 3035 and 338 Polish Holstein-Friesian bulls were tested to find carriers of CVM and BY, respectively. Among analyzed bulls 191 CVM carriers (6.29%) and 20 BY carriers (5.92%) were identified. No CVM carriers were observed beginning from 2016, whereas only single BY carriers was identified annually for the last 5 years. One bull turned to be double CVM/ BY carrier as a son of also double CVM/BY top Dutch sire (JABOT 90676-4-9). It is shown that CVM and BY defects are practically eradicated from Polish dairy cattle although incidental testing should be continued if new bulls with CVM or BY carriers in sire or dam pedigree will unexpectedly appear.
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Authors and Affiliations

S. Kamiński
1

  1. University of Warmia and Mazury, Department of Animal Genetics, Faculty of Animal Bioengineering, Oczapowskiego 5, 10-719 Olsztyn, Poland
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Abstract

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

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Authors and Affiliations

S. Kamiński
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Abstract

The aim of the study was to find out whether carriers of new lethal mutation in SDE2 gene occur in the population of Polish Holstein-Friesian bulls. Eighty seven bulls were included in the analysis. Bulls were selected as having in the pedigree known carrier of SDE2 mutation (bull Mountain USAM000002070579). All bulls were diagnosed by PCR amplification of 524 bp fragment of SDE2 gene followed by digestion of Bcc I restriction enzyme. Heterozygotes (carriers) were confirmed by sequencing. Each new carrier was used to trace another potential carriers among its offspring available in Polish Holstein Bull Repository Database. Among 87 bulls, 50 new SDE2 carriers were found. The study has shown that mutation in SDE2 gene causing early embryo mortality is already transmitted to Polish Holstein-Friesian cattle. The results are sufficient to initiate the screening program to reveal new carriers and to avoid further spreading of SDE2 lethal mutation.

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Authors and Affiliations

S. Kamiński

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