scholarly journals The spectrum of genetic variants of the a- and b-globin clusters in patients with hemoglobinopathies living in the Republic of Dagestan

2020 ◽  
Vol 19 (3) ◽  
pp. 50-53
Author(s):  
S. G. Mann ◽  
E. V. Raikina ◽  
I. M. Yunusova
Keyword(s):  
Genetic Variants ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Research Center ◽  
Federal State ◽  
Endemic Region ◽  
Pediatric Hematology ◽  
Common Genetic Variants ◽  
Abnormal Hemoglobin ◽  
The Republic

Hemoglobinopathies are a group of hereditary hemolytic anemias common in the countries of the Mediterranean, Southeast Asia and Africa, where malaria was previously common. Due to population migration and an increase in the number of mixed marriages, hemoglobinopathies are also relevant to Russia. Among the Russian Federation's subjects, the Republic of Dagestan is the most endemic region for the incidence of hemoglobinopathies. This study aimed to identify the spectrum of mutations in patients with hemoglobinopathies living in the Republic of Dagestan. The research was approved by Independent ethic committee and the academic board of Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology (Moscow, Russia). Material from 100 patients was sent for molecular genetic research to the Laboratory of Molecular Biology, Federal State Budget Scientific Institution Scientific Research Center for Surgery named after Dmitry Rogachev. Genetic variants of the genes of the a- and b-globin clusters were determined using multiplex ligase-dependent amplification of samples and Sequencing by the Sanger method. Eighteen genetic variants with different frequencies were detected. The mutation frequency of the b-globin cluster was 62.5%, the a-globin cluster was 23.2%, and the variants leading to the appearance of abnormal hemoglobin were 14.3%. The five most common genetic variants among this cohort were also identified: CD8(-AA) and IVSI-110 (G>A), -(a) 3.7 and -(a) 20.5 and the CD6 variant GAG>GTG [Glu>Val] leading to abnormal hemoglobin S.

Inter-Strain Hybridization of Kluyveromyces lactis for creating efficient lactose-fermenting Yeast

2021 ◽  
Vol 37 (4) ◽  
pp. 43-50
Author(s):  
E.S. Naumova
Keyword(s):  
Kluyveromyces Lactis ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Amino Acid Sequences ◽  
Research Center ◽  
Lactose Permease ◽  
Kurchatov Institute ◽  
Molecular Genetic Study ◽  
Lactose Fermentation ◽  
Physiological Tests

A molecular genetic study of Kluyveromyces lactis yeasts isolated from various dairy products in the countries of the former Soviet Union and other regions of the world has been carried out. Based on physiological tests, four strains were selected that carry different LAC loci and are characterized by good fermentation intensity: VKM Y-1339 (LAC3), VKM Y-1333 (LAC3), NRRL Y-1118 (LAC1), and NRRL Y-1140 (LAC2). Eleven hybrids of the selected strains with different rates of lactose fermentation were obtained. No correlation was found between the intensity of lactose fermentation and the amino acid sequences of the LAC12 lactose permease gene of the LAC1, LAC2, and LAC3 loci. Apparently, a specific combination of genotypes of crossed strains has a more significant effect on the fermentation activity. The results obtained showed that inter-strain hybridization of K. lactis dairy yeast is an effective method for creating new strains with high fermentation capacity. Hybrids H2-3 (NRRL Y-1118 × VKM Y-1333) and H3-3 (NRRL Y-1140 × VKM Y-1333) with the highest ability to ferment lactose are of interest for further molecular genetic research and breeding programs. Key words: Kluyveromyces lactis, β-galactosidase, lactose permease, LAC4, LAC12, LAC1 locus, LAC2 locus, LAC3 locus, inter-strain hybridization, lactose fermentation, heterosis Acknowledgment - The authors are grateful to the Genomic Center of the Kurchatov Institute SRC---GosNIIgentika for sequencing the nucleotide sequences of the LAC12 genes for lactose permease on the Applied Biosystems 3730 automated analyzer. Funding - This work was supported by an internal grant from the National Research Center Kurchatov Institute (order of the National Research Center Kurchatov Institute No. 1779).

scholarly journals Outlook for Neurofi bromatosis Type I Research in the Republic of Bashkortostan

2020 ◽  
Vol 10 (2) ◽  
pp. 115-121
Author(s):  
R. N. Mustafin ◽  
E. K. Khusnutdinova
Keyword(s):  
Expression Patterns ◽  
Molecular Genetic ◽  
Genetic Correlations ◽  
Genetic Research ◽  
Clinical Manifestations ◽  
The Body ◽  
Heterozygous Mutation ◽  
Type I ◽  
Dominant Type ◽  
The Republic

Neurofi bromatosis type I (NF1) is a common hereditary tumour syndrome with autosomal dominant type of inheritance. Average worldwide incidence rate of NF1 is 1:3000, equal in men and women. Th e disease develops with a heterozygous mutation in the oncosupressor neurofi bromin-encoding gene NF1. No NF1-associated most common mutations have been found, with over 1400 mutations being described along the gene. No clinical and genetic correlations are observed for NF1, and its symptoms may vary considerably within same inheritance group. Typical NF1 manifestations include pigmented patches and multiple cutaneous or subcutaneous neurofi bromas, oft en disfi guring in degree. Pathogenetic therapy for NF1 is not yet developed, whilst surgical tumourectomy may lead to recurrence and new tumour development in other localities on the body. Molecular genetic research on putative interfaces with epigenetic factors and gene expression patterns may open promising future avenues. Further, establishing a marker NF1 mutation in NF1 patients will allow secondary prevention of the disease. A survey of russian NF1-related literature reveals prevalence of individual clinical case descriptions. In the Russian Federation, studies of NF1-associated mutations in gene NF1 originate from Moscow and Bashkortostan, which sets off advancement of Bashkir medical genetics and urges further developments. In Bashkortostan, 10 NF1-associated mutations were described from 16 patients. Th e reported mutations с.1278G>A (p.Trp426Х), с.1570G>A (p.Glu540Lys), с.1973_1974delTC (р.Leu658ProfsX10), с.3526_3528delAGA (p.Arg1176del), с.3826delC (р.Arg1276GlufsX8), с.4514+5G>A, c.5758_5761delTTGA (p.Leu1920AsnfsX7) in the NF1 gene are new to science. Further research into other genes’ and microRNA expression in patients with various clinical manifestations of NF1 should be aimed at discovering its possible involvement in disease pathogenesis.

scholarly journals Genetic variants identified in children with recurrent infections

2021 ◽  
Vol 20 (4) ◽  
pp. 13-17
Author(s):  
A. S. Levina ◽  
E. N. Suspitsin ◽  
N. V. Skripchenko ◽  
O. V. Goleva ◽  
O. M. Ibragimova
Keyword(s):  
Immune System ◽  
Primary Immunodeficiency ◽  
Genetic Variants ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Recurrent Infections ◽  
Laboratory Studies ◽  
Inflammatory Disorders ◽  
Pathogenic Variants ◽  
Rare Genetic Variants

Currently, the most effective way to diagnose hereditary defects of the immune system is molecular genetic research, the results of which are evaluated in conjunction with the data of clinical and laboratory studies.Aims of the sudy: to evaluate the frequency and spectrum of rare genetic variants associated with the development of primary immunodeficiency (PID) in children with recurrent infections.Materials and methods: DNA samples from 113 children with recurrent infections were analyzed by targeted multigene sequencing of 338 PID-associated genes. Results: Pathogenic variants appropriate to the potential diagnosis of PID were identified in 8% of patients. Interestingly, 47.8% of children had variants associated with auto-inflammatory disorders.

scholarly journals GWAS on Birth Year Infant Mortality Rates Provides New Evidence of Recent Natural Selection

2021 ◽  
Author(s):  
Yuchang Wu ◽  
Shiro Furuya ◽  
Zihang Wang ◽  
Jenna E Nobles ◽  
Jason M Fletcher ◽  
...  
Keyword(s):  
Natural Selection ◽  
Infant Mortality ◽  
Genetic Variants ◽  
Molecular Genetic ◽  
Genetic Correlations ◽  
Infant Mortality Rate ◽  
Selection Processes ◽  
Novel Approach ◽  
Common Genetic Variants ◽  
The Uk

Following more than a century of phenotypic measurement of natural selection processes, much recent work explores relationships between molecular genetic measurements and realized fitness in the next generation. We take a novel approach to the study of contemporary selective pressure by examining which genetic variants are "sustained" in populations as mortality exposure declines. Specifically, we deploy a so-called "regional GWAS" that links the infant mortality rate (IMR) by place and year in the UK with common genetic variants among cohorts in the UK Biobank. These cohorts (born 1936-1970) saw a decline in IMR from above 65 per 1,000 to under 20 per 1,000, with substantial subnational variation and spikes alongside wartime exposures. Our results show several genome-wide significant loci, including LCT and TLR10/1/6, related to area-level cohort IMR exposure during gestation and infancy. Genetic correlations are found across multiple domains, including fertility, cognition, health behaviors, and health outcomes, suggesting an important role for cohort selection in modern populations.

scholarly journals Self-Organization of the Biological Evolution

Genes ◽  
2019 ◽  
Vol 10 (11) ◽  
pp. 854
Author(s):  
Arber
Keyword(s):  
Genetic Variants ◽  
Molecular Genetic ◽  
Bacterial Genome ◽  
Genetic Research ◽  
Biological Evolution ◽  
Living Organism ◽  
Bacterial Strains ◽  
Different Types ◽  
Set Up ◽  
The One

We report here experiments carried out with nonpathogenic Escherichia coli bacterial strains and their phages. This research yielded interesting insights into their activities, occasionally producing genetic variants of different types. In order to not interfere with the genetic stability of the parental strains involved, we found that the bacteria are genetically equipped to only rarely produce a genetic variant, which may occur by a number of different approaches. On the one hand, the genes of relevance for the production of specific genetic variants are relatively rarely expressed. On the other hand, other gene products act as moderators of the frequencies that produce genetic variants. We call the genes producing genetic variants and those moderating the frequencies of genetic variation “evolution genes”. Their products are generally not required for daily bacterial life. We can, therefore, conclude that the bacterial genome has a duality. Some of the bacterial enzymes involved in biological evolution have become useful tools (e.g., restriction endonucleases) for molecular genetic research involving the genetic set-up of any living organism.

scholarly journals Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension

Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 638
Author(s):  
Shahood Fazal ◽  
Malik Bisserier ◽  
Lahouaria Hadri
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Right Ventricular ◽  
Genetic Variants ◽  
High Throughput Sequencing ◽  
Molecular Genetic ◽  
Pulmonary Arteries ◽  
Pulmonary Vasculature ◽  
Common Genetic Variants ◽  
Pulmonary Arterial

Pulmonary arterial hypertension (PAH) is a rare and chronic lung disease characterized by progressive occlusion of the small pulmonary arteries, which is associated with structural and functional alteration of the smooth muscle cells and endothelial cells within the pulmonary vasculature. Excessive vascular remodeling is, in part, responsible for high pulmonary vascular resistance and the mean pulmonary arterial pressure, increasing the transpulmonary gradient and the right ventricular “pressure overload”, which may result in right ventricular (RV) dysfunction and failure. Current technological advances in multi-omics approaches, high-throughput sequencing, and computational methods have provided valuable tools in molecular profiling and led to the identification of numerous genetic variants in PAH patients. In this review, we summarized the pathogenesis, classification, and current treatments of the PAH disease. Additionally, we outlined the latest next-generation sequencing technologies and the consequences of common genetic variants underlying PAH susceptibility and disease progression. Finally, we discuss the importance of molecular genetic testing for precision medicine in PAH and the future of genomic medicines, including gene-editing technologies and gene therapies, as emerging alternative approaches to overcome genetic disorders in PAH.

scholarly journals DNA barcoding in some Belarusian insects

Biologija ◽  
2020 ◽  
Vol 65 (4) ◽  
Author(s):  
Sergey E. Dromashko ◽  
Alexey A. Semianiak ◽  
Nina A. Balashenko
Keyword(s):  
Environmental Changes ◽  
Molecular Genetic ◽  
Genetic Research ◽  
High Variability ◽  
Coi Gene ◽  
Sample Collection ◽  
Current State ◽  
Number Of Factors ◽  
Mitochondrial Region ◽  
The Republic

Due to a number of factors in the anthropogenic load on ecosystems, environmental changes, and competition between native and invasive species, the loss of species diversity has currently risen to an alarming scale. One of the prospective approaches to remedy the current state and halt the loss is the international project “Barcode of Life”. The report describes the results of molecular genetic research on the insect representatives of such orders as Coleoptera (beetles), Lepidoptera (butterflies), and Trichoptera (caddisflies) using the cytochrome c oxidase subunit 1 of the mitochondrial region (COI). We proposed a technique for the sampling of biological material to isolate DNA from the hind legs of individuals. The technique prevents removal of the individuals of the most valuable species collected on the territory of the Republic of Belarus from their habitats. The DNA sample collection of order representatives was investigated. For the subfamily Cetoniinae (flower chafer), significant differences in haplotypes among the representatives of the Belarusian and European parts of their areal were found. For Trichoptera, it was shown that the COI gene has high variability to differentiate species. It was also revealed that some species of caddisflies, which Belarusian researchers believe to be synonymous ones, have sequences with big differences according to the BoldSystem database. This fact should be explored in the future. So, our analysis allows considering the COI gene as a satisfactory marker for the species identification in the Belarusian insects’ taxa studied.

scholarly journals The prevalence of various clinical forms of the disease and variants of CYP21A2 gene mutations in congenital adrenal cortical dysfunction in children and adolescents in the Republic of Tatarstan

2019 ◽  
Vol 64 (5) ◽  
pp. 165-170
Author(s):  
M. R. Shaydullina ◽  
A. S. Sultanova ◽  
D. A. Khabibullina ◽  
A. N. Zamalova
Keyword(s):  
Neonatal Screening ◽  
Medical Center ◽  
Molecular Genetic ◽  
Health Clinic ◽  
Federal State ◽  
Ministry Of Health ◽  
Cyp21a2 Gene ◽  
Disease Case ◽  
Case Rate ◽  
The Republic

Сongenital adrenal hyperplasia (CAH) – is one of the versions of inherited enzymopathy. If it was dedected too late, that can lead not only to some fatal consequences, but to patient’s death as well. Neonatal screening of CAH allows to detect the desease promtly and start an immediate therapy in order to prevent difficult complications of the desease and patient’s disablement.Aim: Analisys of the frequency of CAH case rate within children in the Republic of Tatarstan (RT) after neonatal screening and also prevalence rate of different clinic forms of empairments and types of gene CYP21A2’s mutations.Methods: Reports of the results of CAH screening by medicogenetic service in RT were analysed. Information about children born, detected cases of CAH was taken from statistic form № 12 “Information on the number of diseases, detected within patient residing in the service area of medical organization, Rosstat” during 2006–2018yrs. Materials for analysis of health clinic of children’s CAH were case histories of patient, observed in endocrinology department of GAUZ “Republican children clinic hospital” Ministry of Health of The Republic of Tatarstan (DRKB MZ RT). Molecular-genetic researches were conducted on the basis of Federal state budgetary institution “National medical center for endocrinology” of the Russian ministry of Health. (FGBU “NMIC of endocrinology) of The Russian ministry of Health) with the support of “Alfa Endo” program CAF charity foundation.Results: During 2007–2017 yrs. according to the results of neonatal screening 32 children with CAH were detected. The case rate ranged from 1:5054 to 1:56 598 newborn. The maximum of the disease case in RT was detected in 2016 (11 children). With 24 children molecular-genetic analysis was conducted, as a result 24 gene CYP21A2’s mutations were detected in homo- and heterozygotic state. The most widely spread mutation turned to be 12spl, which was found in 45,8% of cases.Conclusion: Conducted analysis confirms the necessity of the further study of the CAH case rate distinctions in different areas and cities of RT, and also upgrade of the organization and performance of the neonatal screening.

scholarly journals Features of spring vegetation of hazel leaves in the foothills of the Republic of Adygea

2021 ◽  
Vol 16 (6) ◽  
pp. 79-88
Author(s):  
E. K. Pchikhachev ◽  
T. A. Isushcheva
Keyword(s):  
Maximum Length ◽  
Research Center ◽  
Federal State ◽  
Collection Site ◽  
Scientific Center ◽  
Federal Research ◽  
The Republic ◽  
Bud Opening ◽  
Academy Of Sciences ◽  
Phenological Phases

The article provides information about one of the areas of work associated with hazel carried out by the Adygh branch of the Federal State Budgetary Institution of Science «Federal Research Center «Subtropical Scientific Center of the Russian Academy of Sciences». The territorial location of this institution is the foothills of the Republic of Adygea, where the objects of the research, i.e. forms and varieties of hazel are located. The institution has been studying hazel since 1995. The article provides data on the collection site where the best forms and known varieties of hazel grow. At the collection site, phenological observations of hazel were carried out from 2017 to 2019. The information is given on the number of forms and varieties of hazel growing on the collection site, on the features of spring vegetation of leaves. The expression «spring vegetation of hazel leaves» implies several spring phenological phases of hazel, such as «beginning of leaf bud swelling»; «massive swelling of leaf buds»; «beginning of leaf bud opening» and «the maximum length of the leaf plate is 5 cm». The meteorological indicators of the studied period from 2017 to 2019 have been indicated. The article discusses the prospects of certain forms and varieties for various breeding purposes. Based on the data presented, it has been concluded that: 2017 was the most unfavorable of the three years of research in the meteorological plan; the earliest leaf vegetation during the three years of research was observed in the «Zakatala» variety; the leaf reaches 5 cm in the «Trapezund» variety and the «Futkurami» variety the very first, and the 20/15 form.

scholarly journals Genotyping of the site of the mtDNA of representatives of the Cetoniinae subfamily

2018 ◽  
Vol 22 ◽  
pp. 102-107
Author(s):  
N. A. Balashenko ◽  
A. A. Semenyak ◽  
A. S. Kornilkova ◽  
I. A. Sen'kevich ◽  
O. V. Prishchepchik ◽  
...  
Keyword(s):  
Dna Isolation ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Polymerase Chain Reaction Method ◽  
Coi Gene ◽  
Chain Reaction ◽  
Reaction Method ◽  
Mtdna Coi ◽  
Polymerase Chain ◽  
The Republic

Aim. Description of the results of molecular genetic research of insects-representatives of the subfamily Cetoniinae (flower chafer). Methods. For the analysis, methods of low-traumatic sampling of material for DNA isolation, polymerase chain reaction method, sequencing of the region of mtDNA COI gene were used. Results. A technique for sampling biological material for isolating DNA from the hind legs of individuals was proposed, which allowed not to remove from the habitat the individuals of the most valuable species, collected on the territory of the Republic of Belarus. A collection of DNA samples of representatives of the subfamily Cetoniinae was prepared. The haplotypes Oxythyrea funesta (Poda, 1761) and Protaetia aeruginosa (Linnaeus, 1767) of representatives of the populations inhabiting the territory of Belarus have been identified. Conclusions. There were significant differences in haplotypes among representatives of the Belarusian and European parts of their areal. Keywords: molecular markers, mtDNA, DNA-barcoding, insects, subfamily Cetoniinae.

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