scholarly journals Prevalence of nontuberculous mycobacteria in Gomel region

2020 ◽  
pp. 78-84
Author(s):  
I. V. Bujnevich ◽  
D. Yu. Ruzanov ◽  
L. V. Zolotuhina ◽  
V. N. Bondarenko ◽  
V. I. Majseenko ◽  
...  
Keyword(s):  
Species Diversity ◽  
Nontuberculous Mycobacteria ◽  
Molecular Genetic ◽  
Genetic Studies ◽  
The Third ◽  
Common Causes

Objective: to assess the species diversity and frequency of detection of nontuberculous mycobacteria (NTM) in patients of antituberculous organizations in Gomel region. Material and methods. 1057 isolates of mycobacteria were analyzed. To identify the species of the mycobacteria, phenotypic and molecular genetic studies of the isolates were performed. Results. A total of 13 NTM types have been identified. The most common were M. avium and M. intracellulare (MAC complex) - 63.7 % (60.79-66.67), followed by M. gordonae and M. fortuitum (7.66 %; 6.13-9.43 and 7.57 %; 6.05-9.33, respectively). Multiple isolation of NTMs of one species (from 2 or more samples) was observed in 190 patients, which amounted to 37.4 % of all the patients. In 75.3 % of the cases, MAC was obtained (χ2 = 97.01; p <0.001). The second place in terms of etiological significance was occupied by M. xenopi (6.43 %), the third one - by M. gordonae (5.3 %). Conclusion. Out of 13 identified NTMs, the most common causes of the development of mycobacteriosis were MAС complex, M. xenopi , M. gordonae .

scholarly journals RAPD-ANALYSIS OF CYCLAMEN SPP. GENOME POLYMORPHISM

2019 ◽  
Vol 7 ◽  
pp. 949-953
Author(s):  
Elza Makaradze ◽  
Galina Meparishvili ◽  
Natela Varshanidze ◽  
Inga Diasamidze ◽  
Ketevan Dolidze ◽  
...  
Keyword(s):  
Genetic Polymorphism ◽  
Species Diversity ◽  
Rapd Markers ◽  
Biological Diversity ◽  
Molecular Genetic ◽  
Wild Plants ◽  
Large Species ◽  
Genetic Studies ◽  
Rapd Pcr ◽  
Rare Endemic

Wild plants form the basis of biological resources both for Georgia and the whole world. A strategic task of any country is to preserve the biological diversity of plants. In the territory of Ajara, a large species diversity of plants grows, among which there are rare, endemic and relict plants. In particular, Cyclamen adzharicum. Modern systematics of wild plants in Georgia is based on classical methods of botany. In this regard, it is relevant to conduct genetic studies of species diversity and genetic polymorphism of species and populations using molecular genetic markers, in particular RAPD-PCR methods. The purpose of this study was to identify genetic polymorphism in Cyclamen L species using RAPD methods. As a result of the conducted research the 65 RAPD-markers in length from 150 to 1500 BP have been revealed. The number of the amplified fragments DNA varied depending on the primer from 6 (OPA-2) to 11 (OPB-4). The results of grouping Cyclamen adzharicum and C. coum samples allowed two clusters to be identified. In the first cluster were samples of three populations Cyclamen adzharicum and showed a low stubble in the intra-species variability. Cyclamen coum was attributed to the second cluster. The used primers gave the opportunity to identify polymorphism between the tested types of cyclamen.

scholarly journals FBN1 gene mutations in patients with congenital ectopia lentis caused by Marfan syndrome

2020 ◽  
Vol 17 (1) ◽  
pp. 87-100
Author(s):  
A. A. Gusina ◽  
N. S. Stalybko ◽  
K. A. Krinitskaya ◽  
V. F. Ivanova ◽  
N. V. Rumiantseva ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Heterozygous State ◽  
Genetic Studies ◽  
Ectopia Lentis ◽  
Fbn1 Gene ◽  
Common Causes ◽  
Families With Children

The prevalence of congenital ectopia lentis is 7–10 cases per 100 000 people. The most common causes of congenital lens displacement are the FBN1 gene mutations that have been found in 25–85 % of patients with this pathology. The aim of the study is to establish the FBN1 gene mutations in patients with congenital lens displacement and in their families. The study group included three families with children and adults suffered from the congenital lens dislocation. The nucleotide sequence of the FBN1 gene was analyzed by direct sequencing. The pathogenicity of the identified mutations was assessed using the Ghent criteria revised in 2010. The mutation c.1884C> G (p.Cys628Trp) in the heterozygous state in the 16th exon of the FBN1 gene was detected in proband 1 and her brother. Proband 2 was found to be a heterozygous career of the mutation c.2461T> A (p.Cys821Ser) in the 21st exon; this mutation was absent in parents and a healthy brother. The mutation c.7851delС (p.Cys2617Trpfs*65) in the heterozygous state in the 64th exon was identified in proband 3 and her mother. In accordance with the revised Ghent classification and the clinical manifestations and molecular genetic studies, Marfan’s syndrome (MS) was diagnosed in all probands and their affected relatives. We detected three pathogenic mutations not previously described in the literature in the 16th, 21st, and 64th exons of the FBN1 gene in patients with congenital ectopia lentis caused by MS. We established the spectrum of clinical manifestations of MS characteristic for the identified mutations.

Three spontaneous mutations at the albino locus in SELH/Bc mice

Genome ◽  
1994 ◽  
Vol 37 (2) ◽  
pp. 190-197 ◽  
Author(s):  
D. M. Juriloff ◽  
S. D. Porter ◽  
M. J. Harris
Keyword(s):  
Animal Model ◽  
Common Ancestor ◽  
Inbred Mouse ◽  
Molecular Genetic ◽  
Spontaneous Mutations ◽  
Genetic Studies ◽  
The Third ◽  
Molecular Events ◽  
Exon 1 ◽  
New Mutations

The SELH/Bc inbred mouse stock has produced an unusually high number of spontaneous mutations, including sph2Bc, nuBc, a recessive lens opacity, and three mutations at the c locus. Classical genetic and molecular genetic studies were done to investigate the origin of the albino locus mutations. Southern blots probed with the mouse tyrosinase cDNA showed that two of the mutations, cBc and c2Bc, are deletions of exons 1, 2 and 3. The third mutation, c3Bc, showed a disruption, either a rearrangement or an insertion, in the region of exon 1. The deletion of the cBc mutation is anticipated to be large as the mutation has inactivated the Mod-2 locus 2 cM away, and an essential locus for postimplantation survival outside the c–Mod-2 interval, whereas the c2Bc mutation is viable and fertile in homozygotes. Homozygotes for c3Bc are also viable and fertile. We conclude that at least some of the molecular events leading to the three albino mutations were independent. The mutations differ from each other and from the classical albino point mutation. All three new mutations originated from parents who were germline mosaics, and the mutational events were therefore all postmeiotic. All three mosaics shared one common ancestor six generations previously, raising the possibility that an instability of the albino locus might have been inherited. SELH/Bc mice may provide an animal model for the study of mechanisms underlying genetic instability.Key words: mutation, tyrosinase, mosaicism, deletion.

The role of immunohistochemistry in the diagnosis of cervical intraepithelial neoplasia of different severity

2016 ◽  
pp. 138-140
Author(s):  
S.I. Zhuk ◽  
◽  
O.A. Taran ◽  
A.N. Koshmienskaya ◽  
T.V. Lobastova ◽  
...  
Keyword(s):  
Protein Expression ◽  
Cervical Intraepithelial Neoplasia ◽  
Precancerous Lesions ◽  
Molecular Genetic ◽  
Intraepithelial Neoplasia ◽  
Reproductive Age ◽  
Moderate Degree ◽  
Ki 67 ◽  
The Third ◽  
Diagnosis And Prognosis

The objective: the finding of protein expression of apoptosis regulator BCL-2, Smooth Muscule Actin and the antigen Ki-67 in cervical intraepithelial neoplasia of different severity to optimize the diagnosis and prognosis of the disease. Patients and methods. The study involved 42 women of reproductive age with cervical intraepithelial the neoplasia of the cervix varying degrees applied to the doctor of cervical pathology Zhitomir regional oncologic dispensary. All women (n=42) were divided into groups. The first group included 15 patients (35.7%) with cervical intraepithelial neoplasia with mild. The second group included 13 women (31%) with cervical intraepithelial neoplasia a moderate degree. The third group was represented by patients with cervical intraepithelial neoplasia with severe – 14 respondents (33.3 per cent). Results. Marker BCL-2 in patients of the first group was positive in 7 patients (46.7%), Smooth Muscule Actin was positive in 9 patients (60%) and Ki-67 was diagnosed in 8 of the surveyed women (53.3%). In the second group of BCL-2 was positive in 8 patients (61.5%), Clone 124, Smooth Muscule Actin, Clone 1A4 was positive in 9 patients (69.2%), and Ki-67 was diagnosed in 12 of the surveyed women (92.3%). Marker BCL-2 in patients of the third group was positive in 12 patients (85.7%), Smooth Muscule Actin was positive in 10 patients (71.4%) and Ki-67 was diagnosed in 13 of the surveyed women (92.9% ). Conclusion. Carcinogenesis is associated with molecular genetic damage to the cervix. Some of the products of this process can be used as prognostic and diagnostic markers of tumor progression. Determination of protein expression of apoptosis regulator BCL-2, Smooth Muscule Actin and the antigen Ki-67 in cervical intraepithelial neoplasia makes it possible to accurately verify the diagnosis and to predict the course of pathological changes in the flat epithelium of the cervix. Key words: cervical intraepithelial neoplasia, cervical cancer, morphological diagnostics of precancerous lesions, BCL-2, Smooth Muscule Actin, Ki-67.

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