Molecular genetic characteristics of Duchenne-Becker muscular dystrophy in the Republic of Moldova

2008 ◽  
Vol 44 (10) ◽  
pp. 1219-1223 ◽  
Author(s):  
V. Sacare
Keyword(s):  
Muscular Dystrophy ◽  
Molecular Genetic ◽  
Becker Muscular Dystrophy ◽  
Genetic Characteristics ◽  
Republic Of Moldova ◽  
The Republic

scholarly journals The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

1997 ◽  
Vol 34 (10) ◽  
pp. 805-812 ◽  
Author(s):  
A J van Essen ◽  
A L Kneppers ◽  
A H van der Hout ◽  
H Scheffer ◽  
I B Ginjaar ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Molecular Genetic ◽  
Becker Muscular Dystrophy ◽  
Genetic Approach

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).

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

Molecular genetic analysis of 67 patients with duchenne/becker muscular dystrophy

1992 ◽  
Vol 90 (1-2) ◽  
Author(s):  
Susanne Niemann-Seyde ◽  
Ryszard Slomski ◽  
Frauke Rininsland ◽  
Ute Ellermeyer ◽  
Jolanta Kwiatkowska ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Becker Muscular Dystrophy ◽  
Molecular Genetic Analysis

scholarly journals A South African family with oculopharyngeal muscular dystrophy: Clinical and molecular genetic characteristics

2015 ◽  
Vol 105 (7) ◽  
pp. 540 ◽  
Author(s):  
Clara Maria Schutte ◽  
Cecelia M Dorfling ◽  
Riaan Van Coller ◽  
Engela M Honey ◽  
Elizabeth Jansen van Rensburg
Keyword(s):  
Muscular Dystrophy ◽  
South African ◽  
Molecular Genetic ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Genetic Characteristics

scholarly journals Myotonic diseases since Asmus Julius Thomas Thomsen (1815–1896) and Peter Emil Becker (1908–2000)

2015 ◽  
Vol 127 (1) ◽  
pp. 59 ◽  
Author(s):  
Allan H. Bretag
Keyword(s):  
Muscular Dystrophy ◽  
Chloride Channel ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Becker Muscular Dystrophy ◽  
Extensive Study ◽  
Muscle Stiffness ◽  
Inherited Disease ◽  
Molecular Genetic Study ◽  
Myotonia Congenita

Julius Thomsen first published his account of myotonia (an unusual muscle stiffness disorder) in himself and his family in 1876. By November 1971, Peter Becker was already famous for his eponymous Becker muscular dystrophy when he came to the Second International Congress on Muscle Diseases, in Perth. There, he presented an extensive study of myotonia, recognising a recessively inherited disease (now known as Becker’s recessive generalised myotonia), distinct from Thomsen’s myotonia congenita and clearly distinguishable from Steinert’s myotonic dystrophy, both dominantly inherited. Peter Becker, Shirley Bryant, Reinhardt Rüdel and Allan Bretag all met in Perth, with mutual interests in myotonia. They subsequently maintained contact while Bretag undertook research in Germany in 1972–1973 and 1977. Later, in 1978, Bretag worked with Bryant’s myotonic goats in Cincinnati. His research on Thomsen’s and Becker’s myotonias has since progressed to confirmation of Bryant’s chloride hypothesis through a molecular genetic study of the muscle chloride channel, CLC -1. This has culminated in several collaborative papers with German colleagues and, finally, in a mechanistic description of how the CLC -1 channel is gated.

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.

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.

scholarly journals Clinical and genetic characteristics of congenital muscular dystrophies (Part 1)

2020 ◽  
Vol 10 (1) ◽  
pp. 10-21 ◽  
Author(s):  
P. A. Chausova ◽  
O. P. Ryzhkova ◽  
A. V. Polyakov
Keyword(s):  
Muscular Dystrophy ◽  
Clinical Symptoms ◽  
Muscle Protein ◽  
Molecular Genetic ◽  
Laboratory Data ◽  
Congenital Muscular Dystrophy ◽  
Neuromuscular Diseases ◽  
Muscular Hypotonia ◽  
Genetic Characteristics ◽  
Progressive Muscle Weakness

Congenital muscular dystrophy is an extremely heterogeneous group of hereditary neuromuscular diseases that are clinically characterized by muscular hypotonia, progressive muscle weakness, and dystrophic changes in the muscles. Overlapping clinical symptoms and many genes that have to be analyzed to determine the specific form of the disease in the patient make diagnosis difficult. The molecular genetic stage of diagnosis includes many different methods depending on the clinical hypothesis and their application has not lost its relevance even in the era of massive parallel sequencing. In addition to DNA sequence analysis, the analysis of muscle protein expression can also play a significant role in the diagnosis of congenital muscular dystrophy. In the review, we will consider the most important etiological, pathophysiological, clinical and laboratory data of the main forms of congenital muscular dystrophy known today.

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