scholarly journals Molecular genetic characteristics of broccoli (Brassica oleracea L. var. italica Plenck) from the VIR collection

2020 ◽  
Vol 181 (3) ◽  
pp. 91-99
Author(s):  
D. A. Fateev ◽  
A. M. Artemyeva
Keyword(s):  
Molecular Genetic ◽  
Diagnostic Value ◽  
Mineral Elements ◽  
Biologically Active ◽  
Molecular Genetic Study ◽  
Genetic Characteristics ◽  
State Register ◽  
Pcr Products ◽  
Early Ripening ◽  
Bud Size

Background. Broccoli is an early-ripening vegetable crop that contains many biologically active compounds and mineral elements. According to the Genesys database, the global genebank collections contain no more than 465 different broccoli accessions. Fourteen cultivars and hybrids developed in Russia are registered in the State Register of the Russian Federation. The need to improve the assortment in a number of important breeding target areas (small habitus, non-spawning, bud size, disease resistance, etc.) requires the use of new effective techniques, including marker-assisted selection methods and association mapping. In this regard, it seems relevant to evaluate the VIR collection of broccoli using molecular genetic markers, which will provide new source material for breeding.Materials and methods. A molecular genetic study involved 39 broccoli cultivars and hybrid populations of different geographical origin, with various biological characteristics, and for various uses. For the analysis, 35 markers of microsatellite sequences specific to the Brassica L. genome were selected. PCR products were separated by electrophoresis on a 3% agarose gel.Results and conclusions. As a result, 110 polymorphic fragments were identified. In the studied loci, 3 to 7 alleles were pinpointed. The discriminating power of markers ranged from 0.75 to 0.96, and averaged 0.91; the average number of fragments per marker was 4.4. Ten unique alleles and 12 rare alleles (found in less than 8% of the samples) were observed in the studied accessions. On the other hand, the 201 bp allele of the locus BC65 was found in 95% of accessions, that is, it was almost common. All used markers have a sufficiently high diagnostic value and can be recommended for DNA identification in broccoli cultivars. An analysis of the genetic similarity of the collection accessions, carried out in the DarWin program using the Unweighted Neighbor-Joining method, made it possible to establish four closely related clusters. 

scholarly journals MOLECULAR-GENETIC CHARACTERIZATION OF FIELD ISOLATES OF RABIES VIRUS IDENTIFIED IN THE TERRITORY OF VLADIMIR, MOSCOW, TVER, NIZHNY NOVGOROD AND RYAZAN REGIONS

2017 ◽  
Vol 62 (3) ◽  
pp. 101-108
Author(s):  
O. N. Zaykova ◽  
T. V. Grebennikova ◽  
A. M. Gulyukin ◽  
A. A. Shabeykin ◽  
I. V. Polyakova ◽  
...  
Keyword(s):  
Phylogenetic Analysis ◽  
Rabies Virus ◽  
Molecular Genetic ◽  
Phylogenetic Group ◽  
Molecular Genetic Study ◽  
Field Isolates ◽  
Vladimir Region ◽  
Pcr Products ◽  
Molecular Genetic Characterization

The article presents a molecular genetic study of genomes of field isolates of rabies virus isolated in the Vladimir, Moscow, Tver, Nizhny Novgorod and Ryazan regions, with the aim of carrying out phylogenetic analysis. We studied 20 samples of purified PCR products containing the rabies virus nucleoprotein. The samples were provided by the Vladimir veterinary service. Sequencing and phylogenetic analysis of the gene showed that 12 fragments of isolates under study were close to the Central phylogenetic group of the rabies virus; namely - 5 isolates from the Vladimir region, 2 from the Nizhny Novgorod region, 2 from the Moscow region, and 3 from the Tver region. Eight studied isolates from the Nizhny Novgorod and Ryazan regions were attributed to the Eurasian phylogenetic group.

scholarly journals Clinical, hormonal, and molecular-genetic characteristics of three cases of 46XY disorder of sex development caused by type II 5-alpha reductase deficiency

2010 ◽  
Vol 56 (3) ◽  
pp. 34-40 ◽  
Author(s):  
A A Kolodkina ◽  
M E Karmanov ◽  
N Iu Kalinchenko ◽  
A N Nizhnik ◽  
M A Nokel' ◽  
...  
Keyword(s):  
Sexual Differentiation ◽  
Molecular Genetic ◽  
Diagnostic Value ◽  
Male Gender ◽  
Type Ii ◽  
Genetic Characteristics ◽  
Reductase Deficiency ◽  
Sex Development ◽  
Srd5a2 Gene ◽  
Androgen Resistance

Deficiency of type II 5-alpha reductase (5-ARII) is known to be responsible for abnormal sexual differentiation in boys. Of primary importance is differential diagnosis between this condition and incomplete form of androgen resistance. In the latter case, adaptation to male gender is highly undesirable because of inefficiency of androgen therapy. In contrast, such adaptation is socially justified in patients with type II 5-alpha reductase deficiency; sometimes, it permits to preserve fertility. The cases reported in this paper demonstrate low diagnostic value of the T/DHT ratio (at least as determined by the immunoenzyme assay) and emphasize the necessity of analysis of the SRD5A2 gene in all patients with suspected deficiency of type II 5-alpha reductase.

scholarly journals MODY2: Clinical and molecular genetic characteristics of 13 cases of the disease. The first description of MODY in Russia

2009 ◽  
Vol 55 (3) ◽  
pp. 3-7 ◽  
Author(s):  
I I Dedov ◽  
Natal'ya Anatol'evna Zubkova ◽  
N Yu Arbatskaya ◽  
A G Akopova ◽  
A N Tyul'pakov
Keyword(s):  
Genetic Study ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Dominant Mode ◽  
Β Cells ◽  
Pancreatic Β Cells ◽  
Molecular Genetic Study ◽  
Genetic Characteristics ◽  
Molecular Bases

Maturity-onset diabetes of the young (MODY) is a clinically heterogenic group of diseases, with an autosomal dominant mode of inheritance and gene mutations resulting in dysfunction of pancreatic β cells. The type of diabetes and further treatment policy can be reliably determined on the basis of the data of a molecular genetic study that confirms gene mutations. Today there are known mutations of 8 genes, of which glucokinase (GCK) gene mutation that leads to the development of MODY2 and occurs most frequently. The spread of this mutation among DM patients in our country has not been studied. The diagnosis of MODY2 was established in 13 members of 5 families with the clinical picture typical of this type. The molecular genetic study revealed 4 new and 1 earlier described mutations. The findings extend ideas on the molecular bases of MODY, which creates conditions for improving the diagnosis of this disease, genetic counseling and the development of pathogenetically founded approaches to treatment.

Abnormal Processing of the Glycoprotein IIb Transcript due to a Nonsense Mutation in Exon 17 Associated with Glanzmann’s Thrombasthenia

1995 ◽  
Vol 73 (05) ◽  
pp. 756-762 ◽  
Author(s):  
Yoshiaki Tomiyama ◽  
Hirokazu Kashiwagi ◽  
Satoru Kosugi ◽  
Masamichi Shiraga ◽  
Yoshio Kanayama ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Molecular Genetic ◽  
Genetic Defect ◽  
Nucleotide Sequence Analysis ◽  
Type I ◽  
Normal Amount ◽  
Immunoblot Assay ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Pcr Products

SummaryWe analyzed the molecular genetic defect responsible for type I Glanzmann’s thrombasthenia in a Japanese patient. In an immunoblot assay using polyclonal anti-GPIIb-IIIa antibodies, some GPIIIa (15% of normal amount) could be detected in the patient’s platelets, whereas GPIIb could not (<2% of normal amount). Nucleotide sequence analysis of platelet GPIIb mRNA-derived polymerase chain reaction (PCR) products revealed that patient’s GPIIb cDNA had a 75-bp deletion in the 3’ boundary of exon 17 resulting in an in-frame deletion of 25 amino acids. DNA analysis and family study revealed that the patient was a compound heterozygote of two GPIIb gene defects. One allele derived from her father was not expressed in platelets, and the other allele derived from her mother had a 9644C → T mutation which was located at the position -3 of the splice donor junction of exon 17 and resulted in a termination codon (TGA). Moreover, quantitative analysis demonstrated that the amount of the abnormal GPIIb transcript in the patient’s platelets was markedly reduced. Thus, the C → T mutation resulting in the abnormal splicing of GPIIb transcript and the reduction in its amount is responsible for Glanzmann’s thrombasthenia.

Clinical application of polymorphic variants of the genes ESR1 and CYP2D6*4 in patients with breast and endometrial cancer

2017 ◽  
pp. 132-138
Author(s):  
O.V. Paliychuk ◽  
◽  
L.Z. Polishchuk ◽  
Z.I. Rossokha ◽  
◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Hormone Therapy ◽  
Molecular Genetic ◽  
Cancer Syndrome ◽  
Genetic Characteristics ◽  
Multiple Tumors ◽  
Receptor Status ◽  
Genetic Examination ◽  
The Impact

The objective: determining gene polymorphism features ERS1, CYP2D6 in patients with breast cancer (RHZ) and endometrial cancer (EC) and the impact assessment studied genetic characteristics compared to receptor status (immunohistochemical determination of expression levels of ER, PR) tumors and the results of the treatment. Patients and methods. article presents the results of complex clinical, morphological, clinical-genealogical, and molecular-genetic examination of 28 females: 19 patients with breast cancer (BC), 9 patients with endometrial cancer (EC), including 5 patients with primary-multiple tumors (PMT) with and without tumor pathology aggregation in families. Results. The It was determined that in patients’ families malignant tumors of breast, uterine body and/or ovaries prevail that corresponds to Lynch type II syndrome (family cancer syndrome). Molecular-genetic examination of genomic DNA of peripheral blood and histological sections for the presence of SNPs of ESR and CYP2D6*4 genes comparing with the results of immunohistochemical study of tumors for receptors ER and PR status have not found associations between these characteristics; although among EC patients the occurrence of genotypes 397ТТ and 351АА was significantly higher comparing with BC patients (55.55% and 10.5% for genotype 397ТТ,and 15.8% for genotype 351АА, respectively). At the same time the patients with BC and primary-multiple tumors (PMT) of female reproductive system organs (FRSO) that carried mutations in BRCA1 in all the cases demonstrated positive ER and PR receptor status and adverse combinations of polymorphous variants of the genes ESR1 (397СС, 397ТС) and CYP2D6*4 (1846G, 1846GA), suggesting combined effect of these factors on the development of malignant neoplasias of FRSO in families with positive family cancer history. In BC patients, receiving standard hormone therapy with tamoxifen, those, who had genotype 1846GG of the gene CYP2D6*4, in 3 patients (15.8%) of 19 (100%) patients disease recurrence was diagnosed. Conclusion. The obtained results allow clinical use of the assessment of polymorphism frequency of the genes ESR1 and CYP2D6*4 for selection of individual hormone therapy regimens schemes for BC patients, to increase efficacy of dispensary observation after finishing of special therapy for such patients, and also personalization of complex and combined treatment regimens. Key words: breast cancer, endometrial cancer, family cancer syndrome, single nucleotide polymorphisms (SNPs) of the genes ESR1, CYP2D6*4.

Thickness of endometrium: predictor of the effectiveness of IVF/ICSI programs (literature review)

GYNECOLOGY ◽  
2018 ◽  
Vol 20 (1) ◽  
pp. 113-116
Author(s):  
L A Bagdasaryan ◽  
I E Korneyeva
Keyword(s):  
Assisted Reproductive Technologies ◽  
Endometrial Thickness ◽  
Molecular Genetic ◽  
Uterine Cavity ◽  
Reproductive Technologies ◽  
Genetic Characteristics ◽  
Vitro Fertilization ◽  
Need To Evaluate ◽  
The Relationship

The aim of the study is to systematically analyze the data available in the modern literature on the relationship between endometrial thickness and the frequency of pregnancy in the program of assisted reproductive technologies (ART). Materials and methods. The review includes data from foreign and domestic articles found in PubMed on this topic. Results. The article presents data on the relationship between the thickness of the endometrium and the frequency of pregnancy in ART programs. The greatest number of studies is devoted to the evaluation of the relationship between the thickness of the endometrium and the frequency of pregnancy on the day of the ovulation trigger. Data are presented on the existence of a correlation between the thickness of the endometrium measured on the day of the ovulation trigger and the frequency of clinical pregnancy, as well as data on the need to evaluate the structure of the endometrium and the state of subendometric blood flow. The importance of multilayered (three-layered) endometrium as a prognostic marker of success in in vitro fertilization/intracytoplasmic sperm injection programs in the ovum is emphasized. The conclusion. The thickness of the endometrium can not be used as an argument for canceling the cycle or abolishing embryo transfer to the uterine cavity. Further studies in this direction are needed with a study of the morphological and molecular genetic characteristics of the endometrium, which in the future will allow us to evaluate the relationship between the thickness of the endometrium and the probability of pregnancy.

Challenges in the differential diagnosis of multiple endocrine neoplasia syndrome type 1 with isolated family hyperparathyroidism

2020 ◽  
Vol 98 (3) ◽  
pp. 218-225
Author(s):  
J. A. Krupinova ◽  
N. G. Mokrysheva ◽  
N. Y. Kalinchenko ◽  
A. K. Eremkina ◽  
A. N. Polyakov ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Molecular Genetic ◽  
Pancreatic Neuroendocrine Tumor ◽  
Family Type ◽  
Dynamic Monitoring ◽  
Heterozygous Mutation ◽  
Molecular Genetic Study ◽  
Men 1 ◽  
Endocrine Neoplasia

Multiple endocrine neoplasia type 1 (MEN-1) is the most common cause of the hereditary type of primary hyperparathyroidism (PHPT). If a family type of PHPT is suspected, a dynamic monitoring of patients and their close relatives should be carried out throughout their lives. We present a clinical case of a family in which four members of a pedigree were diagnosed with familial isolated hyperparathyroidism (FIHP). The diagnosis was changed to MEN-1, because it appeared that one of the patients had pancreatic neuroendocrine tumor. Molecular genetic study of MEN1 by direct by means of Sanger sequencing revealed that six family members had a new heterozygous mutation in exon 9: s. 1252 G> T p. D418Y.

PRODUCTION OF BLENDED JUICE FROM PUMPKIN, QUINCE, PERSIMMON

2018 ◽  
pp. 59-62
Author(s):  
I. A. Kyazimova ◽  
А. А. Kasumova ◽  
А. А. Nabiev
Keyword(s):  
Phenolic Compounds ◽  
Organic Acids ◽  
New Technology ◽  
Mineral Elements ◽  
Biologically Active ◽  
Active Components ◽  
Aliphatic Acids ◽  
Free Glucose ◽  
Dietary Value ◽  
Quantitative Indicators

Production of plant products, including juices around the world increases continuously. In the fruit and vegetable juices contain a significant amount of monosaccharides (glucose and fructose), organic acids, vitamins, phenolic compounds, mineral substances and other biologically active components that determine the nutritional and dietary value. For the prevention of various diseases associated with impaired metabolic processes, we developed a new technology of preparation of food by blending juice of pumpkin, quince and persimmon. Thus prepared organic blended juice contains a substantial amount of free glucose and fructose, different phenolic compounds, a sufficient amount of organic acids, mineral elements, including iodine and other components that determine its nutritional and biological value. In prepared juices were evaluated the quantitative indicators of β-carotene, vitamin C, glucose and fructose, sucrose, starch, pectin substances. Also in the atomic absorbtion spectrometer Analyst 400 (PerkinElmer, USA) was analyzed content of the organic acids and phenolic compounds. Prepared juices were tested in accordance with 10 point scoring scale. It is established that all juices contain a sufficient amount of the minerals. In pumpkin and quince juices not contain iodine while it presents in sufficient amount in persimmon juice that’s why in the blended juice mineral in addition to mineral elements iodine are contained. In pumpkin and persimmon aliphatic acids are contained in small amount. For this reason during the blending process was used quince juice which is rich in aliphatic acids. The blended juice is light straw color, with delicious flavor, a slight astringent property and a balanced taste.

Breeding study of sea buckthorn (Hippophae rhamnoides L.) in the Institute of Horticulture, NAAS оf Ukraine

2020 ◽  
pp. 37-49
Author(s):  
V.V. Moskalets ◽  
◽  
T.Z. Moskalets ◽  
I.V. Grynyk ◽  
O.A. Shevchuk ◽  
...  
Keyword(s):  
Genetic Markers ◽  
Cell Biology ◽  
Molecular Genetic ◽  
The State ◽  
Sea Buckthorn ◽  
National Academy Of Sciences ◽  
Scientific Cooperation ◽  
State Register ◽  
Academy Of Sciences

The authors present the results of the sea buckthorn breeding at the Institute of Horticulture (NAAS). The stages of the work have been analyzed – from studying and selecting the initial material in the conditions of the Polissya, Polissya-Lisosteppe and Lisosteppe ecotopes (2012-2016) to the successful targeted introduction to the Northern part of the Lisosteppe (2017-2019) and new forms have been characterized according to the traits valuable for economy and molec-ular genetic markers. The new forms of the researched crop taking into consideration the high indices of their productiv-ity,adaptivity to the unfavourable abiotic and biotic environmental factors and consumption quality of fruits for pro-cessing and making functionary products were entered officially into Genetic Fund of the Plants of Ukraine as con-firmed by the certificates of copyright and developed genetic passports. The list of these genotypes includes 1-15-1 (Nos-ivchanka, UA3700073), 1-15-8S (Mitsna, UA3700079), make form 1-15-6Ch (Aboryhen 6/11, UA3700080), 1-15-9 Ka-rotynna, UA3700082), 1-15-3 (Pamiatka, UA3700076), 1-15-8V (Soniachne siayvo, UA3700075), 1-15-11 (Lymonna, UA3700072), 2-15-73 (Morkviana, UA3700077), 1-15-5 (Adaptyvna, UA3700078), 1-15-8B (Osoblyva, UA3700083), 1-15-6 (Apelsynova, UA3700084) and forms 6A/11 (UA3700081), 1-15-5a (Sribnolysta 5a, UA3700074). The possibility of using 5 DNA markers to characterize genotypes of sea buckthorn bymeans of the molecular genetic markers was tested and evaluated in the framework of the scientific cooperation with the Institute of Cell Biology and Genetic Engineering of the National Academy of Sciences of Ukraine. It should be noted that the most polymorphic markers were HrMS025 and HrMS026. However, the marker HrMS014 was monomorphic, but appeared in all the samples, so it can be used as a reference. The best forms of sea buckthorn Adaptyvna (certificate №190899) and Osoblyva (certificate №190900) were included into the State Register of Plant Varieties Suitable for dissemination in Ukraine, and the cultivars of the univer-sal use Nadiina (applications №18299010), Oliana (applications №18299009) and Morkviana (applications № 20299001) and cv pollinator Obrii (applications №18299008) undergo the State strain test. The attention is concentrat-ed on the promising directions of the new sea buckthorn genotypes for the prior breeding and genetic investigations at the Institute of Horticulture (NAAS) and its network.

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