scholarly journals Epidemiology and molecular genetic characteristics of Lyme borreliosis pathogens circulating in tick’s population in the Almaty oblast of the Republic of Kazakhstan

2021 ◽  
Vol 97 (6) ◽  
pp. 535-545
Author(s):  
A. O. Bissenbay ◽  
A. V. Zhigailov ◽  
Yu. V. Perfilyeva ◽  
D. A. Naizabayeva ◽  
A. S. Neupokoyeva ◽  
...  
Keyword(s):  
Lyme Borreliosis ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Epidemiological Data ◽  
Rrna Gene ◽  
Ixodes Persulcatus ◽  
Genetic Characteristics ◽  
Haemaphysalis Punctata ◽  
The Republic ◽  
Dna Genotyping

Background. Information on the geographical distribution of different species of the Borrelia burgdorferi sensu lato (B. burgdorferi s.l.) complex is of great epidemiological importance, since different genospecies are associated with certain clinical manifestations of Lyme borreliosis. Although Almaty region of the Republic of Kazakhstan is considered to be endemic for tick-borne borreliosis, there is still no accurate data on the level of borrelia infection in ticks in the region, including information on the genotypes of circulating borrelia.The aim of this work was to study ticks collected from humans in the Almaty region of the Republic of Kazakhstan in 2018.Materials and methods. Ticks were tested for the presence of B. burgdorferi s.l. DNA, genotyping of the identified borrelia was done by sequencing of the fragment of 16S rRNA gene. The analysis of epidemiological data on the incidence of Lyme borreliosis in the Almaty region in 2013–2018 was performed.Results. Rhipicephalus turanicus (116/253), Haemaphysalis punctata (74/253), Dermacentor marginatus (28/253), and Ixodes persulcatus (23/253) were the predominant species of ticks taken from humans. The prevalence of B. burgdorferi s.l. infection in I. persulcatus ticks was 39.13% (9/23) It should be noted that the DNA of B. burgdorferi s.l. was also detected in single individuals of D. marginatus, H. punctata, and R. turanicus, although these species are not considered as competent B. burgdorferi s.l. vectors.Conclusion. As a result of sequencing of the positive homogenates of ticks, two genotypes of B. burgdorferi s.l. were identified: B. afzelii and B. garinii and/or B. bavariensis. Thus, at least two genospecies, B. afzelii and B. garinii and/or B. bavariensis, circulate in the territory of the Almaty region.

Clinical and genetic characteristics of rare pathogenic variants of the CFTR gene in Russian patients with cystic fibrosis

2021 ◽  
Vol 31 (2) ◽  
pp. 148-158
Author(s):  
A. Yu. Voronkova ◽  
Yu. L. Melyanovskaya ◽  
N. V. Petrova ◽  
T. A. Adyan ◽  
E. K. Zhekaite ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Variants ◽  
Pancreatic Insufficiency ◽  
Protein Energy Malnutrition ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Cftr Gene ◽  
Genetic Characteristics ◽  
Missense Variants ◽  
Pathogenic Variants

The variety of clinical manifestations of cystic fibrosis is driven by the diversity of the CFTR gene nucleotide sequence. Descriptions of the clinical manifestations in patients with the newly identified genetic variants are of particular interest.The aim of this study was to describe clinical manifestations of the disease with the newly identified genetic variants.Methods. Data from Registry of patients with cystic fibrosis in the Russian Federation (2018) were used. The data review included three steps — the search for frequent mutations, Sanger sequencing, and the search for extensive rearrangements by MLPA. 38 pathogenic variants were identified that were not previously described in the international CFTR2 database. We selected and analyzed full case histories of 15 patients with 10 of those 38 pathogenic variants: p.Tyr84*, G1047S, 3321delG, c.583delC, CFTRdele13,14del18, CFTRdele19-22, c.2619+1G>A, c.743+2T>A, p.Glu1433Gly, and CFTRdel4-8del10-11.Results. A nonsense variant p.Tyr84* was found in 5 patients (0.08 %). Two missense variants c.3139G>A were found in 2 siblings (0.03 %). The c.4298A>G was found in 1 patient. Other variants were detected in a single patient (0.02 %) each. They included two variants of a deletion with a shift of the reading frame 3321delG and c.583delC, two splicing disorders c.2619+1G>A and c.743+2T>A, three extended rearrangements CFTRdele19-22, CFTRdele13,14del18, and CFTRdel4-8del10-11. The last two variants include 2 rearrangements on one allele, which cause the severe course in two young children. 8 of the 10 variants are accompanied by pancreatic insufficiency (PI). Among patients with p.Tyr84*, one had ABPA, one had liver transplantation, and all had Pseudomonas aeruginosa infection. Nasal polyps were diagnosed in 2 patients with p.Tyr84*, 1 with G1047S, 1 with CFTRdel4-8del10-11, and 1 patient with 3321delG, who also had osteoporosis and cystic fibrosis-related diabetes (CFRD). 2 patients with PI with 3321delG and CFTRdel4-8del10-11 genetic variants, and 1 with PI with p.Glu1433Gly genetic variant had severe protein-energy malnutrition (PEM).Conclusion. Clinical manifestations of previously undescribed CFTR genetic variants were described. 5/10 genetic variants should be attributed to class I, 3/10 – to class 7 of the function classification of pathogenic CFTR gene variants associated with transcription and translation disruptions. Class of the identified missense variants c.3139G>A and c.4298A>G has not been established and requires further functional, cultural, and molecular genetic studies.

scholarly journals MOLECULAR-GENETIC CHARACTERISTICS OF SHIGELLA SONNEI-2013 STRAIN ISOLATED DURING THE OUTBREAK IN DYSENTERY IN THE REPUBLIC ABKHAZIA IN 2013

2018 ◽  
pp. 72-76
Author(s):  
O. V. Vasileva ◽  
A. S. Volynkina ◽  
I. V. Kuznetsova ◽  
S. V. Pisarenko ◽  
A. N. Kulichenko
Keyword(s):  
Nucleotide Sequence ◽  
Molecular Genetic ◽  
Housekeeping Genes ◽  
Shigella Sonnei ◽  
Personal Genome ◽  
Virulence Plasmid ◽  
Genetic Characteristics ◽  
E Coli ◽  
Type Iv ◽  
The Republic

Aim. Study of molecular-genetic properties of Shigella sonnei-2013 strain isolated during the outbreak in dysentery in the republic Abkhazia in 2013. Materials and methods. Genetic typing of the tested strains using multilocus sequence typing (MLST). Analyzed of nucleotide sequence fragments 7 of conservative «housekeeping» genes adk, fumC, icd, mdh, purA, recA, gyrB. Sequenced of DNA fragments compared with reference sequences from database of Escherichia coli MLST. Phylogenetic analysis was performed using UPGMA method and computer program START 2. Whole-genome sequencing performed on a genetic analyzer Ion Torrent Personal Genome Machine (PGM™) using fragment libraries (shot-gun). Aligning reads have been carried out with the program GS Reference Mapper. Results. Defined sequence - type of the studied strain - ST-152, one of the most common genotypes for S. sonnei. Demonstrated the high degree of similarity obtained contig to the sequences of the chromosome and plasmids А, В, С и E strains S. sonnei 53G and S. sonnei Ss046. Identified contigs with a high percentage similarity to the sequence of virulence plasmid p026-Vir of E. coli 026:H11 (H30). In the genomic S. sonnei-2013 revealed nucleotide sequence of 136 genes were found located on the p026-Vir strain of E. coli 026:Н11 (НЗО). Discovered genes controlling biosynthesis of type IV pili involved in adhesion to abiotic surfaces and biofilm formation. Conclusion. Identified structural peculiarities of strain induced by fragments of virulence plasmid p026-Vir strain E. coli 026:H 11 (H30).

scholarly journals Mantle Zone Cell Lymphomas. New Opportunities for Diagnosis and Treatment (Epidemiological Research)

2020 ◽  
Vol 9 (4) ◽  
pp. 261-265
Author(s):  
E. I. Kankumasheva ◽  
Ch. Kh. Valiakhmetova
Keyword(s):  
Bone Marrow ◽  
Mantle Cell Lymphoma ◽  
Cell Lymphoma ◽  
Molecular Genetic ◽  
Epidemiological Data ◽  
Patient Specific ◽  
High Dose ◽  
Rare Type ◽  
Genetic Characteristics ◽  
Mantle Cell

Introduction. Mantle cell lymphoma is a rare type of B-cell non-Hodgkin lymphoma. According to statistics the incidence of this disorder amounts to 2-3 per 100,000 people; this is about 6% of all non-Hodgkin lymphomas. It has been established that various molecular genetic characteristics of mantle cell lymphoma patients may present opportunities for a patient-specific approach to the disease prognosis and treatment strategy.Materials and methods. The paper presents a retrospective analysis of 45 mantle cell lymphoma patients treated at the GAUZ RKOD of the Ministry of Healthcare from 2015 until now. The data used in the analysis included clinical examination, lab panels, PET CT, tumour and bone marrow biopsy specimen cytology, histology and immunohistochemistry. We analysed the epidemiological data, the patients’ clinical presentation characteristics, treatment approaches, immediate and long-term outcomes.Results and discussion. We have established that the pathological process most frequently involves bone marrow (44%) and spleen (41%). The MIPI scores distribution was as follows: high in 14 (30%), medium in 20 (45%), low in 11 (41%). Ki67 was recorded at under 30% in four cases, in others it amounted to over 30%. In 2015–2017 patients were treated with the R-CHOP protocol with the following support with rituximab. PFS averaged at 20 months, 8 (17%) of patients remain in lasting remission (since 2015). In 2017 the R-BAC (high dose cytarabine for SCT candidates) and R-B (for the elderly and comorbid patients) became protocols of first line. Since 2018 eight patients have undergone auto-SCT (at the first late recurrence) as a treatment consolidation stage. As of now 13 patients have been examined in federal centres for del17p and the TP53 mutation.Conclusion. We have demonstrated the need for and the option of treatment depending on the results of molecular genetic testing of mantle cell lymphomas.

Biological properties and molecular and genetic characteristics of plague microbe strains circulating in sandy natural plague foci of the Republic of Kazakhstan

Bacteriology ◽  
2020 ◽  
Vol 5 (3) ◽  
pp. 25-33
Author(s):  
Z.Zh. Abdel ◽  
◽  
Т.V. Меkа-Меchеnkо ◽  
А.А. Аbdirasilova ◽  
R.S. Musagaliyeva ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Biological Properties ◽  
Genetic Characteristics ◽  
Central Asian ◽  
Genetic Features ◽  
Natural Foci ◽  
Parasitic System ◽  
The Republic ◽  
Main Component ◽  
Atypical Strains

Since 2010, an active course of epizootics with the release of the plague pathogen, isolated from hosts and vectors has been established in 8 autonomous foci of the plague from 14 autonomous foci of the Central Asian plague focus in Kazakhstan. It was necessary to take into account the parameters of variability of the main component of the parasitic system – the plague microbe in the process of certification of landscape and epizootological zoning of natural foci of plague in Kazakhstan. The aim of the work was to study the phenotypic and genetic properties of strains of the plague microbe isolated in natural sandy plague foci of Kazakhstan. Materials and methods. The work used 1196 strains of Yersinia pestis isolated over the past 10 years (2010–2019) from natural sandy plague foci, strain passports, literature sources, data on certification of plague foci in Kazakhstan. The study of the strains was carried out by bacteriological, serological and molecular genetic methods. Results. Certification and typification of the territories of sandy plague foci were carried out, taking into account the phenotypic and molecular-genetic properties of Y. pestis strains isolated from 12 autonomous foci of the Central Asian plague focus of Kazakhstan in 2010–2019. According to the results of the study, 84 atypical strains were identified. As a result of the analysis, 18 genotypes were identified among the studied strains, of which 13 (72.2%) were unique and did not repeat in the sample. The remaining 5 genotypes formed 5 clusters, combining 20 strains (60.6%) and all strains were phylogenetically assigned to representatives of the Mediaevalis biovar. Key words: plague microbe, plague foci, phenotypic features, molecular genetic features

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 Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470)

2019 ◽  
Vol 9 (2) ◽  
pp. 30-36
Author(s):  
E. I. Dadali ◽  
I. A. Akimova ◽  
N. A. Semenova ◽  
D. M. Guseva ◽  
O. A. Shchagina ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Clinical Manifestations ◽  
Compound Heterozygous ◽  
Pontocerebellar Hypoplasia ◽  
Genetic Characteristics ◽  
Molecular Genetic Diagnosis ◽  
Severity Of The Disease ◽  
Detection Of Mutations ◽  
Compound Heterozygous State

Introduction. The description of the clinical and genetic characteristics of eight patients with autosomal-recessive variant pontocerebellar hypoplasia due to mutations in the TSEN54 gene.Purpose. Description of clinical and genetic characteristics of Russian patients with type 2A and type 4 of pontocerebellar hypoplasia.Materials and methods. The diagnosis of pontocerebellar hypoplasia was established on the basis of the specific features of clinical manifestations and detection of mutations in the gene TSEN54 based on the analysis of the results of exome sequencing. Results. 8 patients with pontocerebellar hypoplasia caused by mutations in the TSEN54 gene were identified. Discussion. Based on the features of clinical manifestations and severity of the disease in 5 patients diagnosed pontocerebellar hypoplasia type 2A, and in 3 patients – type 4. In patients with type 2A of pontocerebellar hypoplasia discovered mutation c. 919G>T (p.Ala307Ser)  in a homozygous state. Patients with type 4 of pontocerebellar hypoplasia this mutation is detected in the compound heterozygous state with c.670_671delAA (p.Lys224fs) and c.1264C>T (p.Gln422fs).Conclusion. The obtained results allow us to conclude that, as well as in European populations, the mutation c.919G>T (p. Ala307Ser) is a major in Russian patients with pontocerebellar hypoplasia 2A and 4 types, which account for about half of all cases of this disease group. The search for this mutation should be the first stage of molecular genetic diagnosis in patients with clinical and magnetic resonance signs of pontocerebellar hypoplasia.

scholarly journals INFLUENCE OF BLOOD GROUPS, CAST AND BLG GENES ON PRODUCTIVITY OF THE SHEEP AND GOATS OF THE ALTAY REPUBLIC

2018 ◽  
Vol 48 (4) ◽  
pp. 63-71
Author(s):  
G. M. Goncharenko ◽  
N. V. Grishina ◽  
T. S. Khoroshilova ◽  
I. V. Romanchuk ◽  
T. B. Kargachakova ◽  
...  
Keyword(s):  
Genetic Similarity ◽  
Molecular Genetic ◽  
Live Weight ◽  
Molecular Genetic Analysis ◽  
Pcr Analysis ◽  
Dna Diagnosis ◽  
Genetic Characteristics ◽  
High Productivity ◽  
The Republic ◽  
Cast Gene

The use of genetic markers in addition to traditional methods of animal selection with desirable genotypes allows to increase the share of animals with high productivity in the next generations and ensures improvement of breeding efficiency. Genetic features of the Prikatun type of the Gorno-Altay semi-fine wool breed of sheep and the white downy goat breed in the Republic of Altay were studied by the method of immunogenetic and molecular genetic analysis. The frequency of antigenic factors was identified and the index of genetic similarity between goats and sheep and their separate herds was calculated. Gene polymorphism of β-lactoglobulin (BLG) and calpastatin (CAST) was revealed by the method of DNA diagnosis. Population and genetic characteristics of the herds was studied by the genes specified. Associative genotype relation to productivity and quality of the produce obtained was analyzed. The index of genetic similarity between the goats and the sheep was at the level of 0.713, between the separate herds of the goats the index was 0.861. The ratio of genotypes in the BLG gene determined by PCR analysis in the white downy goats was S1S1– 16.1%; S1S2– 50.6%; S2S2– 33.3%. In the Prikatun type two genotypes were identified in this gene: BB with the frequency of 59.2%, and AB – 40.8%. Two different alleles were identified in the CAST gene of sheep (M and N). The genotype MM was the predominant variant in the CAST sheep gene, whose frequency was 88%. The frequency of occurrence of animals with NN genotype was 1%, MN – 11%. It was shown that the gene equilibrium in the herds was not broken, χ2= 0.931. It was noted that heterozygous goats (S1S2) by BLG gene had a higher live weight by 0.30-0.61 kg compared to other variants of BLG gene (p<0.05). It was also found that lambs with genotype MM of the CAST gene had a higher live weight by 5.5 kg than MN heterozygotes (p< 0.01). However, this difference was not revealed in other age and sex groups of animals.

scholarly journals New Pathogenic Viruses of Natural Foci in Primorye Isolated over the 80-Year History of the Institute: A Review of Virological Studies

2021 ◽  
pp. 26-32
Author(s):  
GN Leonova ◽  
SI Belikov ◽  
IG Kondratov
Keyword(s):  
Viral Infections ◽  
Molecular Genetic ◽  
Far East ◽  
Clinical Manifestations ◽  
Ixodid Ticks ◽  
Whole Genome ◽  
Genetic Characteristics ◽  
Eurasian Continent ◽  
Powassan Virus ◽  
Far Eastern

Background: The discovery of a new viral disease called tick-borne encephalitis (TBE) in the Far East in 1937 triggered the thematic virology research on the Eurasian continent. The purpose of our study was to conduct a virological and epidemiological monitoring of tick-borne viral infections in the Primorsky Krai over an 80-year period. Materials and methods: Several hundreds of strains belonging to the viruses of the TBE complex (Flaviviridae family) and other families have been isolated; their biological, antigenic and molecular genetic characteristics have been studied. Results: The most complete picture of the Far Eastern population of the TBE virus was obtained in the 1990s based on whole genome sequencing of 50 TBEV strains isolated from patients with different clinical manifestations of the disease and from ixodid ticks. It was established that all the strains belong to the same Far Eastern subtype of TBEV with three clusters (Oshima-, Sofjin-, and Senzhang-). In 1972, the Powassan virus was first isolated from Haemaphisalis longicornis ticks on the Eurasian continent. Phylogenetic analysis based on the whole genome characteristics of the Spassk-9, Nadezdinsk-1991 and Partizansk-2006 strains, as well as the characteristics of five fragments of other Powassan virus strains, indicated that they all belong to the Powassan virus lineage I. The first comparative description of three strains Primorye-155-77, Primorye-20-79 and Primorye-185-91 of the Louping ill virus was given. A comprehensive study of the isolated Ozernoe strain of a deceased female patient enabled identification of the first clinical case of the lyssavirus disease in the Asian part of Russia. This strain is genetically close and has a common ancestor with the Irkut strain and is attributed to pathogens of the genus Lyssavirus, family Rhabdoviridae. Conclusion: Isolation of a highly pathogenic lyssavirus and several viruses of the TBE complex indicates the importance of such virology surveillance and proves the necessity of its continuation.

Clinical and molecular genetic description of a new type of mucopolysaccharidosis in Yakutia

2021 ◽  
pp. 33-40
Author(s):  
С.Н. Новгородова ◽  
Е.Е. Гуринова ◽  
А.Л. Сухомясова ◽  
В.М. Аргунова ◽  
Л.Н. Николаева ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Clinical Signs ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
Hereditary Diseases ◽  
Genetic Characteristics ◽  
Lysosomal Diseases ◽  
Turkish Family ◽  
New Type ◽  
The Republic

Введение. В статье приведены клинические и молекулярно-генетические характеристики нового наследственного заболевания с аутосомно-рецессивным типом наследования - мукополисахаридоз-плюс синдрома, впервые описанного в якутской популяции и в одной турецкой семье. Синдром относится к группе лизосомных заболеваний и был внесен в международную базу наследственных заболеваний OMIM под номером # 617303. Цель: дать клиническую и молекулярно-генетическую характеристику мукополисахаридоз-плюс синдрома у пациентов, наблюдавшихся в Якутии с 2006 по 2020 год. Методы. Объектом исследования послужили клинические данные из генетических карт 17 пациентов из 15 якутских семей, наблюдавшихся и состоявших в Республиканском генетическом регистре наследственной и врожденной патологии Медико-генетического центра «Республиканской больницы №1 - Национального центра медицины» в городе Якутске. Результаты. Клиническая картина у пациентов проявляется типичными признаками мукополисахаридозов, но с более тяжелым течением заболевания, приводящим к ранней младенческой смерти. У всех больных обнаружена мутация p.R498W в гене VPS33A в гомозиготном состоянии, у их родителей - в гетерозиготном. Заключение. Характерным признаком мукополисахаридоз-плюс синдрома является ранняя манифестация, быстропрогрессирующее течение с мультисистемным поражением легких, почек, сердца, центральной нервной и гемопоэтической систем и младенческая смертность. Background. This article provides data on the clinical and molecular genetic description of a new hereditary disease with an autosomal recessive inheritance - mucopolysaccharidosis-plus syndrome, first described in the Yakut population and in one Turkish family. The syndrome belongs to the group of lysosomal diseases and was included into the international database of hereditary diseases OMIM under the number # 617303. Aim. To describe clinical and molecular genetic characteristics of mucopolysaccharidosis-plus syndrome in patients observed in Yakutia from 2006 to 2020. Methods. The material for the study was clinical data from genetic records of 17 patients from 15 Yakut families, who were observed and registered in the «Republican genetic register of hereditary and congenital pathology of the Medical Genetic Center of the Republic hospital No. 1 - National Center of Medicine» in Yakutsk city. Results. The clinical phenotype is manifested by typical clinical signs of mucopolysaccharidosis, but with a more severe course of the disease, leading to early infant death of patients. Mucopolysaccharidosis-plus syndrome cannot be diagnosed enzymatically. All patients were found to have a specific p.R498W mutation in the VPS33A gene in a homozygous state, and in their parents in a heterozygous state. Conclusions. A characteristic sign of mucopolysaccharidosis plus syndrome is early manifestation and infant mortality, as well as multisystem damage to organs: lungs, kidneys, heart, central nervous and hemopoietic systems.

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