scholarly journals Cytomic analysis: a modern universal tool for biomedical and ecological and hygienic research (literature review). Part 1

2021 ◽  
Vol 100 (10) ◽  
pp. 1151-1156
Author(s):  
Elena K. Krivtsova ◽  
Faina I. Ingel ◽  
Lyudmila V. Akhaltseva

The understanding of the connection between malignant cell transformation and genetic instability has existed for a long time. Such markers of genetic instability as micronuclei (MN) and nuclear abnormalities - nucleoplasmic bridges (NPM) and nuclear buds are signs of malignant growth. However, they were seen only as a by-product of genetic instability, a convenient tool for its study for a long time. Only the studies of recent decades that used the latest methods of molecular genetic analysis (genome sequencing of an individual cell, long-term intravital microscopy and individual chromosomes labelling, hybridization in situ, etc.) have made it possible to establish that the rearrangements of the genetic material in cancer cells are much deeper and more massive than it thought to be. In addition, MN turned out to play an active role in maintaining the state of chromosomal instability in the cell population. This review outlines the current understanding of the processes leading to the emergence of unstable genomes - the phenomenon of «genomic chaos» and its particular case, chromothripsis. The molecular biological features of MN and their role in cellular life and the life of the whole organism are also considered. The significance of MN as diagnostic and prognostic indicators in oncological, neurodegenerative and many other diseases has been analyzed. Much attention is paid to the use of cytome analysis of peripheral blood lymphocytes and human epithelial cells in medical research. It has been suggested that, when used in medical research, cytome analysis can serve as a tool to identify individuals with higher cancer risk. We used the PubMed, Web of Science, ResearchGate, Scopus, eLibrary databases as the sources of literature.

2020 ◽  
Vol 24 (7) ◽  
pp. 747-754
Author(s):  
V. R. Kharzinova ◽  
N. A. Zinovieva

One of the main tasks of genetics and animal breeding is the assessment of genetic diversity and the study of genetic relationships between different breeds and populations using molecular genetic analysis methods. We analysed the polymorphism of microsatellites and the information on the state of genetic diversity and the population structure of local breeds in Russia: the Kemerovo, the Berkshire, the Liven, the Mangalitsa, and the Civilian; in the Republic of Belarus: the Large White and the Black-and-White; and in Ukraine: the White Steppe, as well as commercial breeds of imported origin of domestic reproduction: the Large White, the Landrace, and the Duroc. The materials used for this study were the tissue and DNA samples extracted from 1,194 pigs and DNA of the UNU “Genetic material bank of domestic and wild animal species and birds” of the L.K. Ernst Federal Research Center for Animal Husbandry. Polymorphisms of 10 microsatellites (S0155, S0355, S0386, SW24, SO005, SW72, SW951, S0101, SW240, and SW857) were determined according to the previously developed technique using DNA analyser ABI3130xl. To estimate the allele pool of each population, the average number of alleles (NA), the effective number of alleles (NE ) based on the locus, the rarified allelic richness (AR), the observed (HO ) and expected (HE ) heterozygosity, and the fixation index (FIS) were calculated. The degree of genetic differentiation of the breeds was assessed based on the pairwise values of FST and D. The analysis of the allelic and genetic diversity parameters of the local breeds showed that the maximum and minimum levels of polymorphism were observed in pigs of the Ukrainian White Steppe breed (NA = 6.500, NE = 3.709, and AR = 6.020) and in pigs of the Duroc breed (NA = 4.875, NE = 2.119, and AR = 3.821), respectively. The highest level of genetic diversity was found in the Large White breed of the Republic of Belarus (HO = 0.707 and NE = 0.702). The minimum level of genetic diversity was found in pigs of the imported breeds – the Landrace (HO = 0.459, HE = 0.400) and the Duroc (HO = 0.480, HE = 0.469) – indicating a high selection pressure in these breeds. Based on the results of phylogenetic analysis, the genetic origin of Large White pigs, the breeds, from which the Berkshire pigs originated, and the genetic detachment of the Landrace from the Mangalitsa breeds were revealed. The cluster analysis showed a genetic consolidation of the Black-and-White, the Berkshire, and the Mangalitsa pigs. Additionally, the imported breeds with clustering depending on the origin were characterised by a genetic structure different from that of the other breeds. The information obtained from these studies can serve as a guide for the management and breeding strategies of the pig breeds studied, to allow their better use and conservation.


Zootaxa ◽  
2012 ◽  
Vol 3505 (1) ◽  
pp. 67
Author(s):  
JIAN-HUAN YANG ◽  
YING-YONG WANG ◽  
TIAN-DU ZHANG ◽  
YAN-JUN SUN ◽  
SHI-SHI LIN

Mell’s gecko Gekko melli Vogt, 1922, a poorly known gecko species in China, had been previously treated as synonym ofGekko subpalmatus for a rather long time. It was recently resurrected as a valid species on the basis of morphological com-parisons of type specimens with the latter species. In this study, we confirmed the specific validity of G. melli based on aset of specimens we collected from China, as well as on the basis of molecular genetic analysis. We also provide a more complete morphological description and diagnosis of G. melli.


2017 ◽  
Vol 54 ◽  
pp. 216-221 ◽  
Author(s):  
Yu. V. Gyzieev ◽  
О. V. Sydorenko ◽  
L. V. Vishnevsky

In Ukraine, especially in certain natural and climatic zones, an important role in the production of food and social life of the population is played by the Carpathian Brown breed of cattle that extremely efficiently uses the natural pastures of the Carpathians. Animals of this breed have unique biological characteristics, resistant to diseases, have high resistance, the ability to withstand stress, have a strong constitution, a high duration of productive use, reproductive and adaptive ability, the content of protein in milk, available for chewing the kappa-casein fraction, good parameters for realization of genetic potential. The Carpathian Brown cattle with its high adaptability to the environment deserve the preservation and sustainable use, and for this purpose it is necessary to create a reliable genetic foundation. Moreover, it is important to know the genetic features of animals that are intended to produce specific products and still remain a significant functional element of the production system in the region. The gene kappa-casein is one of the few known genes, is uniquely associated with the signs of protein digestibility and technological properties of milk. Allele In the kappa-casein gene is associated with a higher protein content in milk, a higher yield of cheese, as well as better coagulation properties of milk. The purpose of this work was to establish the genotypes and to determine the genetic structure of the population of the Carpathian Brown breeders for the gene of kappa-casein (CSN3) with the determination of the possibility of their further use. The material for research was the semen of the bulls of Carpathian Brown breed (n = 21 heads), which originate from the leading tribal herds of the Zakarpattia oblast and evaluated by origin, by their own productivity at the Zakarpattia Regional State Tribal Station (now Private Joint-stock company "Zakarpatske plempidpryyemstvo"). In accordance with FAO recommendations for assessing the risk status of animal genetic resources and calculations carried out, a brown Carpathian breed of cattle is in the critical state of risk of disappearance. This status depends on the effective size of the population, the number of females and males, trends in the dynamics of their changes and the way breeder breeding work. In 2005 in 16 controllable herds of Zakarpattia and Ivano-Frankivsk oblasts there were 2866 heads of cattle of Carpathian Brown breed, including 1083 cows. And since 2014 according to the State Register of subjects of breeding business in livestock breeding, no breeding farm has left in Ukraine for breeding this kind of breed and there is no program of breeding the pedigrees. The breeding stock of Carpathian Brown breed is breeding only in private peasant farms. According to FAO recommendations, a part of the genetic material from the breeders of the brown Carpathian breed that belongs to Private Joint-stock company "Zakarpatske plempidpryyemstvo" was deposited in the Bank of Animals of Genetic Resources of Institute of Animal Breeding and Genetics nd. a. M.V.Zubets of NAAS. According to the data provided in the section "Reserve gene pool" of the Catalog of bulls of dairy and dairy-meat breeds, allowed to reproduce the mother stock in 2017, information is provided on 28 bulls of Carpathian Brown breed with available semen. Therefore, taking into account the results of the monitoring and analysis carried out, it should be noted that the possibility of restoration of the stock breed stock of Carpathian Brown breed has not been lost. Carpathian Brown breed as a local breed requires systematic population-genetic monitoring. The genetic material of the breeders of Carpathian Brown breed according to the genealogical structure is diverse and belongs to 12 lines. The most numerous representatives of the fruit of the lines of the Sokola 553 i Malchyka 3, Kaplera 43, Stretcha 143612, Fitsko 33, Pishty 10, Eleyma 110327, Raneta 584, Rupora 6507, Siroho 1759, Shoni 6 i Yu. Yuvelira 273, which at one time were the most widespread in the breed. Representatives of these lines for the CSN3 gene revealed polymorphism of all possible variants of the genotypes AA, AB and BB. According to the results of molecular genetic analysis, determination of frequency of distribution of genotypes and alleles of bulls of Carpathian Brown breed according to the gene of kapa-casein CSN3 has been determined. The frequency of the desired genotype BB among the examined animals was 0.143, and the frequency of carriers of the genotype AA was 0.381. Frequency of carriers of the heterozygous genotype AB was 0.476. The carrier frequency of the allele A in the animals tested is 0.619, which is twice as high as the allele B frequency of 0.381. By Hardy-Weinberg law, we did not determine the probable difference between the actual and expected distribution of genotype frequencies for the CSN3 gene. Conclusions on the basis of the analysis of the established genotypes and the determined frequency of allelic variants for the kappa-casein (CSN3) gene in the explored bogs of Carpathian Brown breed Private Joint-stock company "Zakarpatske plempidpryyemstvo" it was revealed that the available genetic resources of the pedigrees are quite varied according to the genealogical and genetic structure.


2021 ◽  
Vol 49 ◽  
Author(s):  
I. V. Zhilin ◽  
E. Yu. Chashkova ◽  
A. A. Zhilina ◽  
A. Ch. Tsyrempilova

Background: Worldwide studies of genetic material, polymorphisms and prognostic gene models for immune-associated disorders have established differences in trans-ethnic population cohorts, which determine phenotypic and other characteristics of the course of these diseases. Ulcerative colitis (UC) is a  chronic immune inflammation of the colon mucosa. More than 100 gene polymorphisms associated with multiple integrated cross-talks have been discovered.Aim: To study the ITGA4, ITGB7, TNFα, IL10 genes polymorphisms in patients with ulcerative colitis belonging to the Buryat ethnic group and living in Irkutsk region, Buryat Republic and Transbaikal territory.Materials and methods: The study included a total of 49 subjects, 24 of them being UC patients and 25 healthy volunteers, compatible in gender, age and ethnic background. The molecular genetic analysis by real time polymerase chain reaction was performed with DNA samples from whole peripheral blood leucocytes.Results: The differences in the prevalence of the ITGA4(rs1143674, rs1449263), ITGB7(rs11574532), TNFα(rs1800629), and IL10(rs1800871) genotypes were non-significant (р>0.05). The IL10(rs1800896) GG homozygote patients had higher odds ratio (OR) for UC compared to the carriers of other polymorphisms (OR 24; 95%  confidence interval (CI) 2.783–206.969; р=0.001). The AA homozygote type was less frequent among UC patients compared to healthy volunteers (OR 0.17; 95%  CI 0.049–0.589; р=0.004). The analysis of genotype frequency distribution of all studied genes including clinical characteristics of the disease showed no significant results (р>0.05). The binary logistic regression analysis has shown that IL10(rs1800896)GG was an UC predictor with sensitivity of 96% and specificity of 50%  (AUC 0.760; 95% CI 0.621–0.899; p=0.002; standard error 0.71).Conclusion: The GG genotype of IL10(rs1800896) is a  UC predictor, whereas the AA genotype is significantly more prevalent among healthy subjects of the Buryat cohort. 


2013 ◽  
Vol 20 (1-2) ◽  
pp. 1-8
Author(s):  
MM Rahman ◽  
L Rahman ◽  
SN Begum ◽  
F Nur

Random Amplified Polymorphic DNA (RAPD) assay was initiated for molecular genetic analysis among 13 F3 rice lines and their parents. Four out of 15 decamer random primers were used to amplify genomic DNA and the primers yielded a total of 41 RAPD markers of which 37 were considered as polymorphic with a mean of 9.25 bands per primer. The percentage of polymorphic loci was 90.24. The highest percentage of polymorphic loci (14.63) and gene diversity (0.0714) was observed in 05-6 F3 line and the lowest polymorphic loci (0.00) and gene diversity (0.00) was found in 05-12 and 05-15 F3 lines. So, relatively high level of genetic variation was found in 05-6 F3 line and it was genetically more diverse compared to others. The average co-efficient of gene differentiation (GST) and gene flow (Nm) values across all the loci were 0.8689 and 0.0755, respectively. The UPGMA dendrogram based on the Nei’s genetic distance differentiated the rice genotypes into two main clusters: PNR-519, 05-19, 05-14, 05-12 and 05-17 grouped in cluster 1. On the other hand, Baradhan, 05-9, 05-13, 05-11, 05-5, 05-6, 05-1, 05-4, 05-15 and 05-25 were grouped in cluster 2. The highest genetic distance (0.586) was found between 05-4 and 05-17 F3 lines and they remain in different cluster.DOI: http://dx.doi.org/10.3329/pa.v20i1-2.16839 Progress. Agric. 20(1 & 2): 1 – 8, 2009


2011 ◽  
Vol 7 (3) ◽  
pp. 225
Author(s):  
Gianfranco Sinagra ◽  
Michele Moretti ◽  
Giancarlo Vitrella ◽  
Marco Merlo ◽  
Rossana Bussani ◽  
...  

In recent years, outstanding progress has been made in the diagnosis and treatment of cardiomyopathies. Genetics is emerging as a primary point in the diagnosis and management of these diseases. However, molecular genetic analyses are not yet included in routine clinical practice, mainly because of their elevated costs and execution time. A patient-based and patient-oriented clinical approach, coupled with new imaging techniques such as cardiac magnetic resonance, can be of great help in selecting patients for molecular genetic analysis and is crucial for a better characterisation of these diseases. This article will specifically address clinical, magnetic resonance and genetic aspects of the diagnosis and management of cardiomyopathies.


Author(s):  
V. M. Kosolapov ◽  
N. N. Kozlov ◽  
I. А. Klimenko ◽  
V. N. Zolotarev

The methods of genetic identification of forage crops varieties and forms have significant scientific and practical importance in breeding and seed multiplication, in protection of author’s rights. At the current moment molecular markers on the base of DNA-polymorphism have been applied widely for these aims. This analytical review examines the possibilities and the prospects of application the different DNA-analysis methods for assessment of forage crops genetic diversity and for development the molecular-genetic passports of breeding achievements. The objective estimation of varieties structure and presence impurities is a necessary condition for improving the methodical approaches in approbation of crops and for decision the problems of timely variety-seed renovation and its systematic replacement. The system of DNA markers that registered in genetic passport will enable to keep the initial genetic structure of variety and to maintain it in production process during long time without fluctuations of agronomic important characteristics and properties. This factor is especially valuable for development the primary seed multiplication.


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