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Two novel single nucleotide polymorphisms (SNPs) were found in the bovine β4-defensin gene intron – A/C transversion at position 1674 and C/T transition at position 1877 – both recognized with BsrI endonuclease. Observed frequencies of the A1674C AA, AC, CC genotypes were 0.65, 0.32 and 0.03, respectively, while those of alleles A and C – 0.81 and 0.19. For the C1877T polymorphism in the Polish-Friesian (PF) population studied only the CC homozygotes (frequency 0.94) and CT heterozygotes (frequency 0.06) were found. Associations were evaluated between the A1687C polymorphism and milk production traits of cows. The data set comprised 8814 records of daily milk, fat, protein and ECM yields, fat, protein, lactose and dry matter contents, and somatic cell count (SCC) of milk of 352 cows. Moreover, 897 records were used of milk fat and milk protein yield and content achiewed in the whole and the standard 305-day lactation, as well as estimates of breeding values of these traits in 352 animals from official recording of milk performance (National Breeding Programme). In the whole lactation the β4-defensin gene A1674C polymorphism was fund significantly related to protein yield while in the standard lactation to fat and protein contents.Moreover, the polymorphism was found related to the breeding value for protein yield, and for FAT and protein content.
Associations were studied between the polymorphic forms of bovine β4-defensin gene and milk traits in cows during the standard (305 days) and the whole lactation. The study was carried out In the years 2004-2007 on 207 Holstein-Friesian cows yielding on the average 9600 kg milk/year. The animals were in their first to fifth lactation, maintained in loose barn and fed ad libitum with TMR (total mixed ration) composed of maize silage, wilted grass silage and concentrates supplemented with minerals and vitamins. The diets were formulated according to the INRA standards. Milk production data were collected from the individual cows’ records during their consecutive lactations.The RFLP-NlaIII method was used to identify the polymorphic forms of β4-defensin gene (C and T).A total of 616 records of standard and 837 of the whole lactation for milk, milk fat and milk protein yield and fat and protein content of milk were statistically evaluated using one-trait repeatability animal model with DMU package.The cows of CC genotype yielded more milk than cows of genotype CT during both the standard (+181 kg, P≤0.05) and the whole lactation (+241 kg, P≤0.05). The CT cows produced milk with higher protein content (P≤0.01 and P≤0.05 for standard and whole lactation, respectively), but the protein yield did not differ significantly between the two genotypes in question. Moreover, no significant differences were identified in fat content of milk between the CC and CT genotype, but the fat field was higher (P≤0.05) in homozygous CC cows.
Because of the antimicrobial role that defensins play in humans and animals, genes encoding these peptides may be considered as molecular markers of a genetically determined susceptibility (or resistance) of the mammary gland to mastitis. Records were gathered of daily milk yield, fat, protein, and lactose content of milk, and milk somatic cell count (SCC) of 217 lactating Black-and-White cows. To determine the defensin gene polymorphism, DNA was isolated from blood and the RFLP method with enzyme TaqI was used. Twenty different polymorphic systems were revealed, possibly representing variants of genes encoding different defensins. Statistical evaluation included cows with more than seven records, and showing the 2.5% frequency of combined defensin genotypes (CDGs). In this way 13 different CDGs of 204 cows appeared available for statistical evaluation. CDGs significantly affected all dairy performance traits studied, as well as SCC. The important message from these results is that the defensin(s) may probably be used as genetic marker(s) in the breeding programmes aiming at selecting highly productive dairy cattle with increased resistance to udder infections.
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