scholarly journals Hybridity of a plant created in a combination of crossing of (Vaccinium uliginosum L. × V. vitis-idaea L.) × Oxycoccus macrocarpus (Aiton) Pursh at the tetraploid level

2018 ◽  
Vol 60 (4) ◽  
pp. 281-291
Author(s):  
Aleh Marozau ◽  
Oleg Yu. Baranov
Keyword(s):  
Molecular Genetic ◽  
Experimental Plant ◽  
Vegetative Organs ◽  
Vaccinium Uliginosum ◽  
Morphometric Features ◽  
Random Amplification ◽  
The Family ◽  
Tetraploid Level ◽  
Generation Sequencing ◽  
Genetic Assay

Abstract The aim of the study was to determine the hybridity of the F1 generation of Vaccinium cf. uliginosum × V. vitis-idaea × Oxycoccus macrocarpus created through the consecutive crossing of some common berry species of the family Ericaceae (bog whortleberry, cowberry and marsh cranberry) at the tetraploid level. Certain aspects of phenology and morphometric parameters of vegetative organs of the supposed hybrid and parent plants were analysed using traditional methods of comparative analysis. Molecular genetic assay, including random amplification of polymorphic DNA, simple sequence repeat and sequencing, were also used. Comparison of the phenological and morphometric features of the experimental plant and its parents allows suggesting that in the combination of crossing of (V. uliginosum × V. vitis-idaea) × O. macrocarpus (the cultivar Searles), a three-species hybrid was created. The allelic variants, specific for V. uliginosum, V. vitis-idaea and O. macrocarpus, were detected in the V. cf. uliginosum × V. vitis-idaea × O. macrocarpus genotype. A next-generation sequencing approach is suggested for estimating the share of the genomes of Vaccinium spp. in the formation of the interspecies hybrid.

scholarly journals Identification of a Novel Non-Stop Mutation in PDE6C Gene in an Iranian Family With Con-Rod Dystrophy

2020 ◽  
Author(s):  
Shahram Nasiri ◽  
Farah Talebi ◽  
Javad Mohammadi Asl ◽  
Farideh Ghanbari Mardasi
Keyword(s):  
Stop Codon ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Genetic Studies ◽  
Eye Disorders ◽  
Stop Mutation ◽  
The Family ◽  
Iranian Family ◽  
Generation Sequencing ◽  
Nonstop Mutation

Cone-rod dystrophy (CORD) is one of the most common genetic eye disorders. Recent genetic studies have demonstrated that it is a genetically heterogeneous disease among patients. Molecular genetic analysis of the 22 genes was performed in a family with Cone-rod dystrophy. Bioinformatics was applied for Next Generation Sequencing, and the variants were confirmed by Sanger sequencing. In this study, the nonstop mutation in the PDE6C gene (a normal stop codon is 859th codon of PDE6C located in exon 22 TAA (Stop) --> CAA (Gln) = Stop859Q) leads to a termination-site change and run-on into the 3' untranslated region (UTR) that predicts an extended protein which was found in the family. This mutation has not been described in patients with the CORD phenotype. Also, this is the first study indicating that a nonstop mutation in the homozygous state in PDE6C is responsible for the congenital recessive CORD phenotype.

scholarly journals A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 123
Author(s):  
Cigdem Yuce Kahraman ◽  
Ali Islek ◽  
Abdulgani Tatar ◽  
Özlem Özdemir ◽  
Adil Mardinglu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Atp7b Gene ◽  
Loss Of Function ◽  
Clinical Presentations ◽  
The Family ◽  
The Brain

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.

scholarly journals Genetic profiling of mistletoe (Viscum album L.) using RAPD-analysis

2020 ◽  
Vol 26 ◽  
pp. 82-86
Author(s):  
Yu. O. Bilonozhko ◽  
A. N. Rabokon ◽  
A. S. PostovoitovA ◽  
L. O. Kalafat ◽  
S. M. PrivAlikhin ◽  
...  
Keyword(s):  
Rapd Markers ◽  
Rapd Analysis ◽  
Molecular Genetic ◽  
Viscum Album ◽  
Dna Fragments ◽  
Coniferous Species ◽  
Genetic Profiling ◽  
Random Amplification ◽  
Polymerase Chain ◽  
Genetic Profiles

Aim. The aim of this research was genetic profiling and identification of genetic differences between V. album speciments, growing on deciduous and coniferous species of woody plants using RAPD markers. Methods. The method of polymerase chain reaction (PCR) with random primers (Random Amplification of Polymorphic DNA - RAPD) was used. Amplified DNA fragments were fractionated by electrophoresis in non-denaturing polyacrylamide gel. DNA bands were detected using the staining with silver nitrate. Results. All the studied mistletoe samples were differentiated from each other, and their unique molecular genetic profiles were obtained. 241 amplified DNA fragments were detected in the range from 200 to 2000 bp, 152 fragments (63%) were polymorphic. The samples were divided into two separate groups depending on the type of host plant. Conclusions. The fact that the samples formed two separate clades confirms the assumption that mistletoe, which grow on pine and grow on maple, represents two separate subspecies of V. album. Keywords: Viscum album L., molecular genetic markers, polymorphism, RAPD.

scholarly journals The role of genetic research with family design in the study of affective disorders

2019 ◽  
pp. 106-108
Author(s):  
E. D. Kasyanov ◽  
G. E. Maso ◽  
A. O. Kibitov
Keyword(s):  
Affective Disorders ◽  
Bipolar Affective Disorder ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Important Criterion ◽  
Genetic Studies ◽  
The Family ◽  
Polygenic Diseases ◽  
Potential Biomarkers

Affective disorders (recurrent depressive disorder and bipolar affective disorder) are multifactorial and polygenic diseases, which suggests the involvement of multiple neurobiological mechanisms. The phenotype of affective disorders is a heterogeneous group of clinically similar psychopathological symptoms, which also makes it difficult to detect potential biomarkers and new therapeutic targets. To study families at high risk of developing affective disorders using both clinical and molecular genetic approaches can help to study the neurobiological basis of depressive conditions, as well as to identify endophenotypes of affective disorders. The most important criterion for an endophenotype is its heritability, which can be proved only within the framework of the family design of the study. Comprehensive clinical and molecular genetic studies based on family design have the best prospects.

A novel dicistrovirus in a captive red squirrel (Sciurus vulgaris)

2021 ◽  
Vol 102 (3) ◽  
Author(s):  
Akbar Dastjerdi ◽  
David J. Everest ◽  
Hannah Davies ◽  
Daniela Denk ◽  
Roland Zell
Keyword(s):  
Genome Organization ◽  
New Genus ◽  
Mammalian Species ◽  
Particle Morphology ◽  
Intestinal Content ◽  
Red Squirrel ◽  
Sciurus Vulgaris ◽  
Red Squirrels ◽  
The Family ◽  
Generation Sequencing

Dicistroviruses are single-stranded RNA viruses in the family Dicistroviridae. The viruses have mainly been detected in arthropods and are the cause of several devastating diseases in many of these species such as honeybees. Increasingly, dicistroviruses have also been detected in both mammalian and avian species in faeces, blood and liver, but with unconfirmed pathology. Here, we report a novel dicistrovirus detected in the intestinal content of a captive red squirrel with enteritis along with the disease history, pathology and genomic characterisation of the virus. Virus particle morphology resembled those of picornaviruses with a diameter of 28–32 nm but failed to be detected using a mammalian/avian pan viral microarray. Next-generation sequencing confirmed a dicistrovirus having a typical dicistrovirus genome organization, but with the polyprotein 1 being shorter by about 100 amino acids, compared to that of other dicistroviruses. Phylogenetic analysis of ORF1 and ORF2 sequences clustered the virus with two yet unassigned dicistroviruses detected in Gorilla gorilla and a freshwater arthropod and likely to be designated to a new genus. Our data further highlights the ever-growing diversity of dicistroviruses, but the clinical significance of the virus in mammalian species and particularly red squirrels has yet to be established.

scholarly journals A18 Random amplification with next-generation sequencing to cover HIV and HCV full-length genomes

2017 ◽  
Vol 3 (suppl_1) ◽  
Author(s):  
L. Cuypers ◽  
N. Conceição-Neto ◽  
T. Dierickx ◽  
Y. Schrooten ◽  
B. Vrancken ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Full Length ◽  
Next Generation ◽  
Random Amplification ◽  
Generation Sequencing

scholarly journals Novel Hypomorphic Mutation inFANCD2Gene Observed in a Fetus with Multiple Congenital Anomalies

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Radoslava Vazharova ◽  
Svetlana Vragaleva ◽  
Violeta Dimitrova ◽  
Samuil Ivanov ◽  
Lubomir Balabanski ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Umbilical Artery ◽  
Snp Array ◽  
Reproductive Decisions ◽  
Hypomorphic Mutation ◽  
Monogenic Disorders ◽  
Bilateral Absence ◽  
The Family ◽  
Generation Sequencing ◽  
Modern Technologies

Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician. The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease. The reported case is of a G2P1 pregnant woman referred for routine ultrasound scan at 24 weeks of gestation (w.g.). The fetus had growth retardation, right kidney agenesis, bilateral absence of radial bones and thumbs, radial deviation of the wrists, and short humeri. Nuchal fold thickness was 5 mm and there was a single umbilical artery. After termination of pregnancy, SNP array genotyping and next-generation sequencing of targeted candidate-genes were performed trying to clarify the etiology of the fetal polymalformative syndrome. A new hypomorphic mutation inFANCD2gene was found to underlie this fetal anomaly. The case illustrates that patients/families affected by rare monogenic disorders may benefit from application of modern technologies like microarrays and NGS.

scholarly journals Proposal for Modification of Cahan's Criteria Utilizing Molecular Genetic Analyses for Cases without Baseline Histopathology: A Unique Method Applicable to Primary Radiosurgery

2018 ◽  
Vol 80 (01) ◽  
pp. 010-017
Author(s):  
Aaron Rusheen ◽  
James Smadbeck ◽  
Lisa Schimmenti ◽  
Eric Klee ◽  
Michael Link ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Vestibular Schwannoma ◽  
Radiation Treatment ◽  
Molecular Genetic ◽  
Secondary Malignancy ◽  
Whole Exome ◽  
Mate Pair ◽  
Generation Sequencing

Background Cahan's criteria have been utilized since 1948 to establish causality between prior radiation treatment and the development of secondary malignancy. One major criterion specifies that histological and radiographic evidence collected before and after radiation treatment must confirm separate tumor types; however, pretreatment biopsy is rarely obtained prior to radiosurgery for vestibular schwannoma and many other skull base and cranial lesions. Therefore, in these cases Cahan's criteria cannot be validly applied. Objective This article proposes an update to Cahan's criteria using modern molecular genetic analysis for cases lacking baseline histopathology. Methods Mate-pair sequencing and whole exome sequencing of a cerebellopontine angle undifferentiated high-grade pleomorphic sarcoma (UHGPS) that developed after stereotactic radiosurgery of a presumed benign vestibular schwannoma. Results Mate-pair sequencing and whole exome sequencing of the sarcoma revealed complex chromosomal aberrations. Notably, the tumor contained a deletion in the NF2 gene at 22q12 and an in-frame deletion on exon 5 of the remaining copy of NF2. Biallelic events impacting NF2 are atypical for UHGPS but are characteristic for vestibular schwannoma. These findings help support the conclusion that the UHGPS arose from a benign vestibular schwannoma all along. Conclusions Next-generation sequencing can be successfully applied to a radiation-induced sarcoma when both the original and malignant tumors harbor separate signature genetic markers. As our understanding of the genetic profile of various tumors expand, we believe that next-generation sequencing and other genomic tools will play an increasingly important role in establishing causality between radiation and the development of secondary malignancy.

scholarly journals The Mitochondrial Genome of Amara aulica (Coleoptera, Carabidae, Harpalinae) and Insights into the Phylogeny of Ground Beetles

Genes ◽  
2020 ◽  
Vol 11 (2) ◽  
pp. 181
Author(s):  
Zhenya Li ◽  
Xinxin Li ◽  
Nan Song ◽  
Huiji Tang ◽  
Xinming Yin
Keyword(s):  
Ribosomal Rna ◽  
Mitochondrial Protein ◽  
Carabid Beetles ◽  
Protein Coding ◽  
Sequencing Method ◽  
The Family ◽  
Outgroup Species ◽  
Complete Mitogenome ◽  
Rna Genes ◽  
Generation Sequencing

Carabidae are one of the most species-rich families of beetles, comprising more than 40,000 described species worldwide. Forty-three complete or partial mitochondrial genomes (mitogenomes) from this family have been published in GenBank to date. In this study, we sequenced a nearly complete mitogenome of Amara aulica (Carabidae), using a next-generation sequencing method. This mitogenome was 16,646 bp in length, which encoded the typical 13 mitochondrial protein-coding genes, 22 transfer RNA genes, two ribosomal RNA genes, and a putative control region. Combining with the published mitogenomes of Carabidae and five outgroup species from Trachypachidae, Gyrinidae and Dytiscidae, we performed phylogenetic estimates under maximum likelihood and Bayesian inference criteria to investigate the phylogenetic relationships of carabid beetles. The results showed that the family Carabidae was a non-monophyletic assemblage. The subfamilies Cicindelinae, Elaphrinae, Carabinae, Trechinae and Harpalinae were recovered as monophyletic groups. Moreover, the clade (Trechinae + (Brachininae + Harpalinae)) was consistently recovered in all analyses.

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