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EN
In contrast to the biallelic expression of most genes, expression of imprinted genes is monoallelic and depends on the sex of the transmitting parents. In humans it has been implicated in some developmental failures, neurodevelopmental and neurobehavioral disorders (such as Prader-Willi/Angelman, Silver-Russel or Beckwith-Wiedemann syndromes). The aim of this review is to present the phenomenon of parental imprinting as well as its molecular mechanism in various mammals. Several maternal and paternal imprinted genes and gene clusters are described.
EN
On the basis of the literature, the new molecular methods useful in animal breeding and selection are described. DNA restriction fragment lenght polymorphism analysis is a tool in the diagnosis of some genetic diseases (RYR1 in pigs, BLAD and DUMPS in cattle). Microsatellite DNA polymorphism is useful in parentage control, genetic characteristic of populations, as well as in gene mapping and marker assisted selection. Cytogenetic analyses are recently supported by fluorescent in situ hybridization (FISH) and primed in situ labelling (PRINS) which make the chromosome aberration diagnosis more precise. One of the expanded method is bio-chip construction for genome analyses.
EN
The aim of this study was to obtain information on the possible influence of the bovine growth hormone gene (bGH) on gametogenesis and reproductive parameters of a 2-year-old Polish Landrace transgenic boar. The bGH gene construct had been introduced into the zygote of the boar with the use of the microinjection technique. On the basis of the available documentation we established that the fertility of the investigated transgenic (bGH) boar was low in comparison with other animals of the Polish Landrace breed, with a poor libido, ineffective matings and, on average, 3 live piglets less per litter. Samples of testis tissue from the boar were obtained after castration. In total, we observed 100 spermatocytes and all of them had normally paired bivalents. It is possible that the boar?s lower fertility was caused by some, as yet unknown factor.
EN
Reciprocal translocations, very frequently identified in pigs, are the cause of fertitlity decrease. The aim of this work was to provide an objective assessment of the real effect of reciprocal translocation (7;13) on the fertility of carriers and associated economic effects. The experiment has shown that fertility, expressed as a mean litter size, decreased by 48% in comparison to that of the control group. On the basis of simulation account, financial losses incurred a translocation as a result of using carrying boar in a commercial herd were estimated at about 8,000 USD for natural mating and at about 162,000 USD for artificial insemination. The results obtained show the need for introducing a system for cytogenetic control of boars producing small litters into the Polish swine improvement programme.
EN
C-banding identified centromeric heterochromatin polymorphism, most often located in a pair no 16, was a basis for selecting animals for the experiment.The aim of the experiment was to assess the impact of centromeric heterochromatin polymorphism on pig fertility, expressed by litter size.The research included the first two litters obtained from 30 pairs of parent with different genotypes as regards the parameter under study.A statistical analysis of the number of offspring from different mating types showed no significant differences between the experimental groups of animals.The results obtaned did not confirm suggested correlation between polymorphism of the centromeric heterochromatin regons and pig fertility, estimated by mean size.Thus the polymorphism cannot be regarded as a selection criterion.
EN
Cytogenetic studies, carried out between 1978 - 1998 at the National Research Institute of Animal Production resulted in identification of several chromosomal aberrations as follows: chromosomal chimerism XX/XY in cattle, sheep and horses, Robertsonian translocations and sex chromosome trisomy in cattle, reciprocal translocations in pigs and sheep, pericentric inversion in pigs. The influence of Robertsonian and reciprocal translocations on fertility of aberration carriers was evaluated and economic losses in pigs due to decreased fertility were calculated. In the light of these results it is advisable to continue cytogenetic control of farm animals in Poland, mainly males being used in reproduction.
EN
The aim of this study was to analyse homology in the telomeric region of chromosome 11 in humans and a corresponding fragment in the porcine genome using the FISH technique. The human band specific probe (HSA 11p15) was used for hybridization with pig chromosomes. The obtained results showed strong signals on human chromosome 11p15, as well as pig chromosome 2p17. Some aspects of the similarity between the human and pig chromosome segments have been discussed.
EN
Prion diseases (for example: scrape of sheep, BSE, CJD of humans) are among the most notable central nervous system degenerative disorders caused by the accumulation of modified cellular protein. The conversion of PrP(C) (the normal cellular protein) into PrP(Sc) (the abnormal disease-causing isoform) involves a conformation change whereby the ?-helical content diminishes and the amount of ? sheet increases. PrP (Sc) is partially resistant to proteases, temperature, high and low pH. Because the incidence of prion diseases is due to several factors, various efforts need to be taken to reduce the scale and consequences of the disease. They include post-mortem and in vivo diagnosis and prophylactics, i.e. monitoring of animals and feed control.
EN
A karyotpe analysis of 565 pedigree beef cattle was carried out as part of cytogenetic studies conducted at the Department of Immuno- and Cytogenetics of the National Research Institute of Animal Production.Using CBG-, GTG- and RBA- binding techniques, 16 cases of the 1;29 Robertsonian translocation were diagnosed in the Charolais breed (two bulls) and hybrids from the Blonde d' Aquitane bulls (4 bulls and 10 heifers).A homozygous form of translocation was identifiedin one heifer.A testicular biopsy and meiotic chromosome analysis were carried out in a bull-carrier of the 1;29 translocation .The presence of a trivalent, characteristic of a centric fusion, was observed.The population under study also showed XX/XY leucocytic chimerism in two young bulls.
EN
IGF2 is one of the genes that control muscle development. Moreover, IGF2 is imprinted, as only the paternal allele is expressed in the offspring. Using real-time PCR for IGF2 genotyping (Carrodegous et al. 2005), we evaluated the frequency of the IGF2 A3072G mutation (Van Laere et al. 2003) in pigs: Polish Landrace (PL, N = 271) and Large White (LW, N = 267). Our results are consistent with previous reports, showing that the A allele is common in breeds subjected to strong selection for lean meat content (A allele frequency was 0.79 in LW and 0.69 in PL). Moreover, we compared body composition, growth performance and meat quality traits in pigs carrying opposite genotypes (A/A and G/G) in the IGF2 gene. The association study revealed that the A allele increases the weight of loin (WL) (additive gene effect = 450+_50 g in LW and 213+_64g in PL), weight of ham (WH) (544+_48 g in LW and 302+_72 g in PL), loin eye area (LEA) (4.9+_0.46 cm2 in LW and 2.1 +_0.95 cm2 in PL), carcass meat percentage (CP) (3.12+_0.27% in LW and 1.89+_0.47% in PL), and decreases average backfat thickness (ABF) (-0.2?0.036 cm in LW and -0.2+_0.048 cm in PL). Additionally, in PL, the A allele increases the weight of tenderloin (WT) (11?0.01 g), average daily gain (ADG) (30.7+_17.29 g), and decreases feed intake (F) (-121+_45 g) and days of feeding (DF) (-3.5+_2.08 days). No significant effects were observed for meat quality traits. Our results suggest that selection based on the IGF2 mutation in Poland may be very useful in PL and LW pigs, where the G allele is still relatively frequent.
EN
Two cattle chromosome painting probes, identifying X and Y heterosomes, were applied to verify the diagnosis of XXY trisomy in an 8-month-old bull of the Polish Red breed. The probes were obtained after chromosome microdissection and labelled with biotin-16-dUTP. In all metaphase spreads, three fluorescence signals were observed - two X and one Y - confirming the diagnosis of a pure XXY trisomy.
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