Spelling suggestions: "subject:"citrullinémie"" "subject:"citruline""
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Kongenitální choroby skotu / Congenital disorders by cattleKOSOBUDOVÁ, Hana January 2012 (has links)
In the framework of this thesis was performed genotyping of 46 specimens of the breed Czech red cattle from the University farm in Czech Budejovice, which monitored the incidence of autosomal recessive genetic disorders, specifically bovine citrullinemia (BC) in exon 5 and deficiency of blood coagulation factor XI (FXI) in exon 9 and 12. Genotyping for BC was done using PCR/RFLP methods and for the disorder FXI in both exons genotypes were determined on the basis of different length of fragments using PCR technology and horizontal agarose electrophoresis. The presence of mutant allele was detected only in the locus for BC and that is in 7 heterozygous carriers, who produced three bands with a length of 185 bp fragments, 103 bp and 82 bp. The frequency of mutant allele and the frequency of heterozygous carriers to 7.6% and 15.2%. Results of the study show that the presence of mutant allele for BC in our tested panel of animals is relatively high. In the future it will be necessary to adopt measures that will lead to the elimination of this allele. Otherwise, its further dissemination would have a negative impact on the health of the population and there might occur complications in the regeneration of Czech red cattle, which is one of our farm animal genetic resources. The literature review deals with the problems of congenital disorders and discusses the importance of health heredity and understanding of the genomic information of cattle.
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