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Том 60, № 5 (2024)

Мұқаба

Бүкіл шығарылым

Ашық рұқсат Ашық рұқсат
Рұқсат жабық Рұқсат берілді
Рұқсат жабық Тек жазылушылар үшін

ОБЗОРНЫЕ И ТЕОРЕТИЧЕСКИЕ СТАТЬИ

Localization of Genetic Factors that Determine the Economically-Useful Traits of the PEAR (Pyrus) and Methods of Marker-Assisted Selection

Pavlenko A., Pikunova A.

Аннотация

DNA markers are an alternative method for accelerated identification of interested genes and loci at the early stages of ontogenesis, and, consequently, DNA markers are able to intensify the breeding process. This article represents overview of research on the localization of economically useful traits in the pear genome and the development and use of marker-assisted selection (MAS) techniques. At the moment, several traits have been localized in the pear genome, i.e.: resistance to scab European (V. pirina Aderh) and Asian (V. nashicola), black spot (Alternaria alternata (Fr.) Keissler), brown spot (Stemphylium vesicarium), fire blight (Erwinia amylovora), pear psylla (Cacopsylla pyri), pear sawfly (Caliroa cerasi), pear blister mite (Eriophyes pyri), self-incompatibility, dwarf trait. Major genes and loci of quantitative traits (QTLs) of fruits characteristics have also been identified, namely: skin color and rustiness of the fruit, size and weight of the fruit, taste, level of ethylene production, harvest time etc. It should be noted that currently Russian research is limited to the validation and use of MAS methods developed abroad. According to the experience of Japanese scientists, the use of MAS for several key traits has made it possible to triple the efficiency of the breeding process. Despite the currently limited list of MBC methods for pears, the high speed of genomic technologies development promises rapid development of new MAS methods in the future. In combination with new breeding technologies (New Breeding Techniques) based on accelerated flowering, the use of MAS for pears is a promising direction of breeding.

Genetika. 2024;60(5):3-25
pages 3-25 views

CNVs in Patients with Neurodevelopmental Disorders: Meta-Analysis

Fedotov D., Kashevarova A., Lebedev I.

Аннотация

This review is devoted to a comprehensive analysis of DNA copy number variations (CNVs) identified in patients with neurodevelopmental disorders (NDDs) from the literature. The selection of publications was conducted using specifically developed criteria. CNVs were characterized based on their clinical significance, type of copy number alteration (microdeletion/microduplication), size, origin, and gene content. The study sample comprised 3,375 patients with NDDs, among whom pathogenic and likely pathogenic CNVs, as well as variants of uncertain clinical significance, were identified in 395 individuals (12%). Chromosomal variations from each category were identified in 89 (3%), 56 (2%), and 241 (7%) patients, respectively. Nine individuals exhibited combinations of CNVs with varying clinical significance. The number of microduplications slightly exceeded the number of deletions (250 and 204, respectively). The size of most CNVs ranged from 193 bp to 400 kb and from 1 to 3 Mb (237 and 96, respectively). Seventy-two variants originated de novo, while 165 were inherited. Eighty-six CNVs were associated with 33 known microdeletion/microduplication syndromes. The most prevalent syndromes included 1q21.1 microduplication (7/395, 1.8%) (OMIM: 612475), 2p16.3 microdeletion (9/395, 2.3%) (OMIM: 614332), 15q13.3 microdeletion (7/395, 1.8%) (OMIM: 612001), 16p11.2 microdeletion (9/395, 2.3%) (OMIM: 611913), and 22q11.2 microduplications (7/395, 1.8%) (OMIM: 608363). Enrichment analysis revealed that pathogenic CNVs, as well as variants of uncertain clinical significance, are enriched in genes associated with abnormal behavioral/neurological phenotypes. Likely pathogenic CNVs included genes linked to disorders of the nervous system and homeostasis/metabolism.

Genetika. 2024;60(5):26-41
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ГЕНЕТИКА ЖИВОТНЫХ

Genetic Variability of the Laxmann’s Shrew (Sorex caecutiens Laxmann, 1788) of the Kolyma River Basin and Chukotka

Pereverzeva V., Dokuchaev N., Primak A., Dubinin E.

Аннотация

Nucleotide sequence polymorphism and haplotypic diversity of the cytochrome b gene were studied in samples of the Laxmann’s Shrew Sorex caecutiens koreni from the populations of the Kolyma River basin and Chukotka. 56 cytb-haplotypes differing among themselves by 87 mutations in 84 sites were found. The cytb-haplotypes of individuals of the subspecies S. c. koreni and S. c. macropygmaeus were shown to belong to the same maternal mtDNA lineage, their monophyletic origin from the same ancestral haplotype Scb1, and the presence of identical cytb-haplotypes in both subspecies. The mutual isolation of the shrew populations in the upper basin of the Kolyma River and Chukotka is shown. The proportion of intrapopulation genetic variability is 95.74%, intergroup variability is 5.74%, and intragroup variability is –1.48%, which reflects a very high level of intrapopulation variability of cytb haplotypes in the studied groups of S. c. koreni, their monophyletic origin, and the genetic unity of the Chukchi samples. The values of molecular diversity indices testify to the stability of populations that have a high value of effective abundance for a long time.

Genetika. 2024;60(5):42-50
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Genetic Diversity of the Field Vole Microtus agrestis (Arvicolinae, Rodentia) in the Central Part of Northern Eurasia According to the Cytochrome b Gene Data

Yalkovskaya L., Sibiryakov P., Krohaleva M., Markova E., Borodin A., Borisov S., Chibiryak M., Bobretsov A.

Аннотация

An analysis of the genetic diversity of the field vole was carried out with the inclusion of new data on the complete sequences of the cytochrome b gene from the least studied area of the species range – the central part of Northern Eurasia (20 localities of the East European Plain, the Urals, Western and Eastern Siberia). The obtained results are generally consistent with modern view on the species phylogeography, but indicate the previously not investigated genetic heterogeneity of the Eastern clade, which occupies the entire Asian part of the species’ range and its European part to Northern and Eastern Europe. The comparison of the genetic diversity analysis results with the age of paleontological findings, carried out using the Urals territory as the example, allows to assume that climatic changes in the late Pleistocene and Holocene could not lead to the complete extinction of the species in the region, but to the spatial redistribution of its populations and to the complete or partial replacement of some genetic groups by others.

Genetika. 2024;60(5):51-65
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ГЕНЕТИКА ЧЕЛОВЕКА

Comparative Analysis of Mutation in the Buccal Epithelium and Blood in Patients with Lung Cancer and Healthy People

Serzhantova O., Novikova A., Mikhailov A., Moshurov I., Gureev A.

Аннотация

Lung cancer is one of the leading causes of cancer death. Finding new methods for the early and accurate diagnosis of lung cancer is critical for effective treatment. We have shown that patients with lung cancer have more mutations in the FLT3, PDGFRA, KDR, PIK3CA, HRAS, FGFR3 genes in the buccal epithelium than people without diagnosed lung cancer. Thus, study of molecular alterations may be used as a method for the accurate diagnosis of lung cancer in the early stages of investigational procedure.

Genetika. 2024;60(5):66-82
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Hypermethylation in Ovarian Cancer of Long Non-Coding RNA Genes: HOTAIR, GAS5, LINC00472, LINC00886, TUG1

Burdyonny A., Lukina S., Uroshlev L., Filippova E., Pronina I., Fridman M., Zhordania K., Kazubskaya T., Kushlinsky N., Loginov V., Braga E.

Аннотация

Recently, more and more data have been accumulating indicating the role of long non-coding RNAs (lncRNAs) in the regulation of biological processes in cells, as well as in the mechanisms of cancer development and progression. Aberrant methylation of promoter regions of both protein genes and lncRNA genes can disrupt their expression and functional activity. Using bioinformatics databases, six lncRNA genes (GAS5, HOTAIR, LINC00472, LINC00886, SNHG17 and TUG1) with CpG islands, differentially expressed and presumably hypermethylated in tumors of patients with ovarian cancer (OC) were selected. A statistically significant (p < 0.05) increase in the methylation level in tumours was demonstrated in a sample of 93 OC specimens using methylation-specific real-time PCR assay. Moreover, for the genes LINC00472, LINC00886, SNHG17 and TUG1, hypermethylation in OC was detected for the first time. 5 genes (except SNHG17) showed a further increase in methylation levels at a more advanced stage, and 4 genes (except SNHG17 and LINC00886) showed a significant association with metastasis. Using real-time RT-PCR, differential changes in the expression level of the GAS5, HOTAIR, SNHG17 and TUG1 genes and a significant correlation of methylation with expression for the GAS5 gene were shown. Thus, hypermethylation associated with the progression and/or development of OC was detected for six lncRNA genes, which is important for elucidating the epigenetic processes involved in the pathogenesis of OC and can be used as new biomarkers of OC.

Genetika. 2024;60(5):83-94
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Identifiable Information Value of Standard Autosomal STR in Indigenous Populations of Russia for Determination of First-Degree Relatedness

Vagaitseva K., Lopatkina M., Kolesnikov N., Kharkov V., Stepanov V.

Аннотация

The effects of the demographic history of mankind have led to the fact that the indigenous peoples of Dagestan and Siberia are inferior in terms of genetic diversity to the populations of Europe, which affects the level of identification informativeness of standard forensic autosomal markers in these populations. In our study, we evaluated the effectiveness of two standard sets of autosomal STRs (13 CODIS, 20 CODIS, Combined DNA Index System) for the genetic testing of parent-child relatedness in four highly inbred populations of the Russian Federation and the Russian population, using two types of reference frequencies. The results of the study confirmed the assumption that the level of identification informativity of standard autosomal markers in highly inbred populations of Siberia and Dagestan is lower than in the Russian population. The total information content of markers of the new CODIS standard exceeds the threshold values required in the order of the Ministry of Health and Social Development of the Russian Federation (No. 346n). At the same time, the probability of a false positive result increases with an increase in the inbreeding coefficient in the population.

Genetika. 2024;60(5):95-101
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КРАТКИЕ СООБЩЕНИЯ

Distribution of Hybrid Necrosis Genes in Genotypes of Winter Soft wheat (Triticum aestivum L.) Cultivars of English Selection

Pukhalsky V., Kudryavtsev A.

Аннотация

The genetic diversity of 15 cultivars of winter soft wheat of English selection has been studied. It was found that 11 (73.3%) of the cultivars studied carried the Ne2 gene (genotype ne1ne1Ne2Ne2), and four cultivars (26.7%) were free of hybrid necrosis genes (genotype ne1ne1ne2ne2). The Ne1 gene was not detected. Cultivars with the Ne2 gene differed in allele strength. Moderate (m) allele was identified in four cultivars, and moderately strong (ms) allele was identified in the genotypes of seven cultivars.

Genetika. 2024;60(5):102-104
pages 102-104 views