scholarly journals Amazing Discoveries of Benthic Fauna from the Abyssal Zone of Lake Baikal

Biology ◽  
2021 ◽  
Vol 10 (10) ◽  
pp. 972
Author(s):  
Ilya Kondratov ◽  
Tatiana Sitnikova ◽  
Irina Kaygorodova ◽  
Natalia Denikina ◽  
Vadim Annenkov ◽  
...  
Keyword(s):  
Lake Baikal ◽  
Molecular Genetic ◽  
Benthic Fauna ◽  
Molecular Genetic Analysis ◽  
Artificial Substrates ◽  
Plastic Substrate ◽  
Freshwater Ecosystem ◽  
Abyssal Zone ◽  
First Time ◽  
Natural Laboratory

Lake Baikal is a natural laboratory for the study of species diversity and evolution, as a unique freshwater ecosystem meeting the all of the main criteria of the World Heritage Convention. However, despite many years of research, the true biodiversity of the lake is clearly insufficiently studied, especially that of deep-water benthic sessile organisms. For the first time, plastic waste was raised from depths of 110 to 190 m of Lake Baikal. The aim of this study was to examine the biological community inhabiting the plastic substrate using morphological and molecular genetic analysis. Fragments of plastic packaging materials were densely populated: bryozoans, leeches and their cocoons, capsules of gastropod eggs, and turbellaria cocoons were found. All the data obtained as a result of an analysis of the nucleotide sequences of the standard bar-coding fragment of the mitochondrial genome turned out to be unique. Our results demonstrate the prospects for conducting comprehensive studies of artificial substrates to determine the true biodiversity of benthos in the abyssal zone of Lake Baikal.

The complete description of larval stages of the lobster shrimpLeonardsaxius amurensis(Kobjakova, 1937) (Decapoda: Axiidea: Axiidae) identified by DNA barcoding

2017 ◽  
Vol 98 (6) ◽  
pp. 1435-1453 ◽  
Author(s):  
Elena S. Kornienko ◽  
Darya D. Golubinskaya ◽  
Olga M. Korn ◽  
Svetlana N. Sharina
Keyword(s):  
Larval Development ◽  
Sequence Data ◽  
Molecular Genetic ◽  
Sympatric Species ◽  
Molecular Genetic Analysis ◽  
Mitochondrial Coi ◽  
Larval Stages ◽  
The Family ◽  
Rdna Sequence Data ◽  
First Time

The complete larval development of the lobster shrimpLeonardsaxius amurensis(Kobjakova, 1937) (Decapoda: Axiidea: Axiidae) is described and illustrated for the first time. The first zoeae of this species were collected from the plankton samples and reared in the laboratory before moulting to the megalopa. A molecular genetic analysis based on comparison of partial mitochondrial COI, 12S rDNA and 16S rDNA sequence data confirmed the identity of axiid larvae found in the plankton andL. amurensisadults collected in the same area. The larval development ofL. amurensisincludes five zoeal stages and a single megalopa. Zoeae I ofL. amurensisare characterized by the presence of one short posterodorsal spine on the fifth pleonite in contrast to the larvae of related sympatric speciesBoasaxius princepshaving four posterodorsal spines on the pleonites 2–5.Leonardsaxius amurensisoccupies an intermediate position between lobster shrimps with abbreviated pelagic development (2–3 zoeal stages) and species with long development (up to eight zoeal stages). Thus, the number of zoeal stages in the family Axiidae varies widely, similarly to that in the families Callianassidae and Upogebiidae.

scholarly journals Molecular-genetic characterization of the human non-hypervariable GC-rich minisatellite UPS29 of gene CENTB5

2007 ◽  
Vol 5 (3) ◽  
pp. 35-45 ◽  
Author(s):  
Irina O Suchkova ◽  
Daria M Shubina ◽  
Ludmila K Sasina ◽  
Natalia O Slominska ◽  
Vadim B Vasilyev ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
In Silico ◽  
Genetic Characterization ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
First Time ◽  
Molecular Genetic Characterization

Human minisatellite UPS29 localized in one of CENTB5 introns was studied in silico and using molecular genetic analysis. For the first time there were revealed seven UPS29 alleles which contained 6-24 repeated units. Allele consisting of 17 repeats was prevailed (91,5 %). Frequency of other alleles varied from 0,29 % to 4,39 %. UPS29 heterozygosity was 12,3 %. Minisatellite UPS29 was classified as low polymorphic and non hypervariable.

scholarly journals Early lesion in the urinary system of a patient with DIDMOAD syndrome

2013 ◽  
Vol 59 (1) ◽  
pp. 18-22
Author(s):  
D P Grishina ◽  
L I Zil'berman ◽  
E Iu Zakharova ◽  
P G Tsygankova ◽  
I É Volkov ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Urinary System ◽  
Homozygous State ◽  
Molecular Genetic Study ◽  
Didmoad Syndrome ◽  
Early Lesion ◽  
Wfs1 Gene ◽  
First Time ◽  
Further Development

The authors present a case report of DIDMOAD syndrome in a girl accompanied by the early development of a severe lesion in the urinary system. The molecular-genetic analysis of the Wfs1 gene revealed thhec.1009A>C,p.T337P missense mutation in exon 8 in the homozygous state. The brother of the patient developed diabetes mellitus that for the first time manifested itself at the age of 6 years. The molecular-genetic study of the boy undertaken bearing in mind his genetically aggravated anamnesis revealed the analogous mutation; this finding maybe used to predict further development of the disease.

scholarly journals Molecular Genetic Cause of Achromatopsia in Two Patients of Czech Origin

2019 ◽  
Vol 75 (5) ◽  
pp. 272-276
Author(s):  
Lucia Hlavatá ◽  
Ľubica Ďuďáková ◽  
Jana Moravíková ◽  
Anna Zobanová ◽  
Bohdan Kousal ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Structural Changes ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Molecular Genetic Analysis ◽  
Clinical Findings ◽  
Gene Therapies ◽  
Pathogenic Variants ◽  
The Right ◽  
First Time

Introduction: Achromatopsia is an autosomal recessive retinal disorder with an estimated prevalence ranging from 1 in 30.000 to 50.000. The disease is caused by mutations in six different genes. The aim of the study was to perform molecular genetic analysis in 11 unrelated probands with a clinical diagnosis of achromatopsia and to describe clinical findings in those that were found to carry biallelic pathogenic mutations. Methods: All probands and their parents underwent ophthalmic examination. Mutation detection was performed using Sanger sequencing of CNGB3 exons 6, 7, 9-13, which have been found to harbour most diseasecausing mutations in patients with achromatopsia of European origin. Results: Three known pathogenic variants in CNGB3 were identified in 2 probands. Proband 1 was a compound heterozygote for the c.819_826del; p.(Arg274Valfs*13) and c.1006G>T; p.(Glu336*). Proband 2 carried the c.1148del; p.(Thr383Ilefs*13) in a homozygous state. The best corrected visual acuity in proband 1 (aged 19 years) was 0.1 in both eyes, in proband 2 (aged 8 years) 0.05 in the right eye and 0.1 in the left eye. Both individuals had nystagmus, photophobia, and absence of colour discrimination. Fundus examination appeared normal however spectral-domain optical coherence tomography revealed subtle bilaterally symmetrical structural changes in the fovea. Conclusion: Molecular genetic analysis of Czech patients with achromatopsia was performed for the first time. Identification of diseasecausing mutations in achromatopsia is important for establishing an early diagnosis, participation in clinical trials assessing gene therapies and may be also used for preimplantation genetic diagnosis.

scholarly journals The first clinical presentation of disorders of sex development 46 XY due to mutation in Steroidogenic factor 1 (SF1) in Russian Literature

2016 ◽  
Vol 62 (1) ◽  
pp. 55-59
Author(s):  
Natalia Yur'evna Kalinchenko ◽  
Tatiana Aleksandrovna Anosova ◽  
Vitaliy Alekseevich Ioutsi ◽  
Anatoly Nikolaevich Tiulpakov
Keyword(s):  
Molecular Genetic ◽  
Critical Role ◽  
Disorders Of Sex Development ◽  
Russian Literature ◽  
Molecular Genetic Analysis ◽  
Heterozygous Mutation ◽  
Steroidogenic Factor 1 ◽  
Sex Development ◽  
And Function ◽  
First Time

Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a critical role in different processes of sex development. Homozygous mutations in SF1 result in adrenal failure and complete testicular disgenesis in 46,XY individuals. According to recent studies heterozygous mutations in SF1 are associated with milder phenotype: they are found in children with 46,XY disorders of sex development (DSD) but with apparently normal adrenal structure and function. Here we present for the first time in Russian literature a case of SF1 deficiency. Molecular genetic analysis of NR5A1 gene revealed a novel heterozygous mutation c.951delC p.H317QfsX17. This clinical case demonstrates the importance of molecular genetic studies in DSD 46,XY, especially severe forms.

Molecular Characterization and Genetic Diversity Study in F3 Population of Rice

2013 ◽  
Vol 20 (1-2) ◽  
pp. 1-8
Author(s):  
MM Rahman ◽  
L Rahman ◽  
SN Begum ◽  
F Nur
Keyword(s):  
Genetic Distance ◽  
Gene Diversity ◽  
Random Amplified Polymorphic Dna ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Polymorphic Loci ◽  
Rice Genotypes ◽  
High Level ◽  
Genetic Diversity Study ◽  
Diversity Study

Random Amplified Polymorphic DNA (RAPD) assay was initiated for molecular genetic analysis among 13 F3 rice lines and their parents. Four out of 15 decamer random primers were used to amplify genomic DNA and the primers yielded a total of 41 RAPD markers of which 37 were considered as polymorphic with a mean of 9.25 bands per primer. The percentage of polymorphic loci was 90.24. The highest percentage of polymorphic loci (14.63) and gene diversity (0.0714) was observed in 05-6 F3 line and the lowest polymorphic loci (0.00) and gene diversity (0.00) was found in 05-12 and 05-15 F3 lines. So, relatively high level of genetic variation was found in 05-6 F3 line and it was genetically more diverse compared to others. The average co-efficient of gene differentiation (GST) and gene flow (Nm) values across all the loci were 0.8689 and 0.0755, respectively. The UPGMA dendrogram based on the Nei’s genetic distance differentiated the rice genotypes into two main clusters: PNR-519, 05-19, 05-14, 05-12 and 05-17 grouped in cluster 1. On the other hand, Baradhan, 05-9, 05-13, 05-11, 05-5, 05-6, 05-1, 05-4, 05-15 and 05-25 were grouped in cluster 2. The highest genetic distance (0.586) was found between 05-4 and 05-17 F3 lines and they remain in different cluster.DOI: http://dx.doi.org/10.3329/pa.v20i1-2.16839 Progress. Agric. 20(1 & 2): 1 – 8, 2009

Diagnosis and Management of Cardiomyopathies – A Focus on Genetics, Cardiac Magnetic Resonance and Clinical Features

2011 ◽  
Vol 7 (3) ◽  
pp. 225
Author(s):  
Gianfranco Sinagra ◽  
Michele Moretti ◽  
Giancarlo Vitrella ◽  
Marco Merlo ◽  
Rossana Bussani ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Imaging Techniques ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Routine Clinical Practice ◽  
Clinical Approach ◽  
Diagnosis And Management ◽  
Made In

In recent years, outstanding progress has been made in the diagnosis and treatment of cardiomyopathies. Genetics is emerging as a primary point in the diagnosis and management of these diseases. However, molecular genetic analyses are not yet included in routine clinical practice, mainly because of their elevated costs and execution time. A patient-based and patient-oriented clinical approach, coupled with new imaging techniques such as cardiac magnetic resonance, can be of great help in selecting patients for molecular genetic analysis and is crucial for a better characterisation of these diseases. This article will specifically address clinical, magnetic resonance and genetic aspects of the diagnosis and management of cardiomyopathies.

The first record of Gyalideopsis helvetica (Graphidaceae, lichenized Ascomycota) for Russia from the southern part of Lake Baikal Region

2015 ◽  
Vol 49 ◽  
pp. 282-288 ◽  
Author(s):  
I. N. Urbanavichene
Keyword(s):  
Lake Baikal ◽  
Baikal Region ◽  
First Record ◽  
Identification Key ◽  
Lake Baikal Region ◽  
First Time

Until recently only two species of Gyalideopsis (G. piceicola and G. alnicola) were known from very few localities in Russia. Gyalideopsis helvetica is reported for the first time for Russia from the southern part of Baikal area (KhamarDaban Range, Baikalsky Zapovednik). Description of the collected specimen and its comparison with the literature data are provided; morphology, ecology and distribution of G. helvetica are discussed. The hyphophores of G. helvetica are recorded and described for the first time. An identification key to Gyalideopsis species known in Russia is provided.

Sign in / Sign up

Export Citation Format

Share Document