Latest Articles from BioDiscovery Latest 4 Articles from BioDiscovery https://biodiscovery.pensoft.net/ Fri, 29 Mar 2024 17:11:36 +0200 Pensoft FeedCreator https://biodiscovery.pensoft.net/i/logo.jpg Latest Articles from BioDiscovery https://biodiscovery.pensoft.net/ Identification of the gene complexes that determine some individual characteristics of a person https://biodiscovery.pensoft.net/article/21998/ BioDiscovery 20: e21998

DOI: 10.3897/biodiscovery.20.e21998

Authors: Irma Mosse, Alexander Kilchevsky, Alexander Gonchar, Maxim Ameliyanovich, Nikita Sedlyar

Abstract: There are some data about genes associated with certain traits of a person in the scientific literature, but these data are often contradictory. It is evident that complexes of genes that affect the manifestation of the trait can be more informative. We have investigated genotypes of 9000 people, using the PCR method, in order to determine their athletic abilities or predisposition to different diseases and pathologies. In particular, we tested about 3000 women with unknown causes of miscarriages for 14 genes associated with the pregnancy development. 1,5 years later we interviewed 700 women and have identified a high genetic risk of pregnancy loss due to hereditary thrombophilia. In most of the cases, doctors took into account our data and applied for these women treatment with anticoagulant drugs such as fragmin in the subsequent pregnancies. So 86.6% of pregnant women have successfully conceived and given birth, and we have received over 500 touching letters of gratitude. Thus, genetic testing allows to identify individual human properties in order to prevent some pathologies or to chose the most suitable kind of sport.

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Conference Abstract Mon, 6 Nov 2017 15:36:24 +0200
Two candidate genes for recurrent pregnancy loss and infertility: Could ZP3 and UPK3B give us new diagnostic and therapeutic approach? https://biodiscovery.pensoft.net/article/20113/ BioDiscovery 20: e20113

DOI: 10.3897/biodiscovery.20.e20113

Authors: Fatma Sılan, Baris Paksoy, Taner Karakaya, Onur Yildiz, Mine Urfali, Ozturk Ozdemir

Abstract: Introduction: Chromosomal indels are relatively common cytogenetic abnormalities. Nonetheless, clinical outcomes depend on the location, size and genes in deletion or duplication regions. The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by ZP3(Zona pellucida3) gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. UPK3B(Uroplakin 3B), a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b(UPK1B), one of the major conserved urothelium membrane proteins. We herein report two cases presenting with the deletions encompassing POMZP3, UPK3B, ZP3, POM121 and POM121C genes. Case1: 25-year-old female presented to our clinic with recurrent pregnancy loss. After clinical and cytogenetic evaluation, which all of them do not feature, she was diagnosed as the deletion of POMZP3 and UPK3B genes with the array-CGH platform. (Agilent SurePrintG3 HumanCGH 60K) Case2: Ten-week embrio of 34-year-old female, infertile for ten years before and this is her first pregnancy after IVF, revealed the deletion of POM121,POM121C and ZP3 genes with the same array-CGH platform. Conclusion: We have evaluated the deletion of two consecutive genes -UPK3B and ZP3- in the genome by array-CGH analysis. Early abortion or infertility due to triploidic, tetraploidic embryos or uniparental disomy, resulting in a change in the structure of the zona pellucida with the mutations of ZP3 gene, may occur. Also mutations of UPK3B gene may cause abortion or infertility due to endometrial origin with defective function of the urothelium membrane proteins. ICSI could be a good choice for ZP3 deficient infertile woman and if PGS choosen without ICSI, uniparental disomia should be excluded.

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Conference Abstract Thu, 10 Aug 2017 14:04:33 +0300
Comet assay - a sensitive tool for genotoxicity assessment of environmental stress in Mytilus galloprovincialis from the Bulgarian Black Sea coast https://biodiscovery.pensoft.net/article/19265/ BioDiscovery 20: e19265

DOI: 10.3897/biodiscovery.20.e19265

Authors: Bela Vasileva, Lachezar Yakimov, Borislava Kukurina, Milena Georgieva, George Miloshev, Nesho Chipev

Abstract: Assessment of DNA damage is of primary concern when the pollution-related stress in living organisms has to be determined. The reason for this concern comes from the evidence that damages in DNA often lead to mutations which are potential threat for the sustainability of organisms and ecological systems. To monitor genotoxicity of the marine environment we have developed a special procedure for application of the method of Comet assay (CA) on the native populations of Mytilus galloprovincialis. Samples were collected from areas with different anthropogenic load along the Bulgarian South Black Sea coast. As the first organ to encounter marine pollutants the gills of the mussels turned-out to be the most appropriate tissue for obtaining a single-cell suspension. Comet assay tests were performed and DNA damage was quantified using several different methods including percentage of DNA in the tail, Comet head and tail area, Comet number, Tail moment, Comet shape, etc. The method allowed us to monitor and predict the genetic risk of marine environmental stressors, particularly persistent pollutants. It proved to be convenient for precise quantification of the on-site loads of genotoxic stress on coastal ecosystems.

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Conference Abstract Tue, 1 Aug 2017 22:58:49 +0300
Genetic changes in natural Taraxacum officinale populations obtained under pollution stress https://biodiscovery.pensoft.net/article/18712/ BioDiscovery 20: e18712

DOI: 10.3897/biodiscovery.20.e18712

Authors: Borislava Kukurina, George Miloshev

Abstract: Plant populations under stress undergo genotypic alterations which can drive the species towards extinction or adaptation. Defining a suitable plant model and the respective genetic markers for studying the perturbations in the population’s genetic diversity is of crucial importance for the needs of bioconservation and proper ecosystem management. In the current study we prove the usefulness of Taraxacum officinale (common dandelion) as a suitable model plant for genetic biomonitoring. We compared the genotype composition of four specific dandelion populations: 1) a population from the area around the closed “Kremikovtzi” metallurgical plant; 2) a population from the still working “Stomana”-Pernik metallurgical facility; 3) a population from a rural, but naturally rich in heavy metals region close to Bosnek village; 4) a control population from a clean site next to Lokorsko village. Four genetic markers of tree different kinds (a microsatellite, a ribosomal DNA marker and two chloroplastic DNA markers) were tested in order to reveal the genotype diversity in the chosen populations. Our results showed strong quantitative and qualitative genotypic differentiation between pollution-impacted and clean populations. The most interesting observation was that the unique genotypes, considered as result of mutations, were predominantly detected in the plants from the heavy metal polluted regions.

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Conference Abstract Tue, 1 Aug 2017 22:55:33 +0300