Browsing by Author "Perminov, Dmitry"

Now showing 1 - 4 of 4
  • No Thumbnail Available
    Item
    First preimplantation genetic testing case for monogenic disease in Latvia
    (2017-12-22) Perminov, Dmitry; Voložonoka, Ludmila; Korņejeva, Liene; Jokste-Pīmane, Evija; Blumberga, Arita; Krasucka, Sandra; Seimuškina, Nellija; Kovaļova, Irina; Fodina, Violeta; Rīga Stradiņš University
    Huntington’s disease (HD) is fatal neurodegenerative disease caused by a (CAG) triplet repeat expansion in the Huntingtin (HTT) gene. Inheritance pattern of the disease is autosomal dominant and onset depending on triplet repeat count. Transgenerational HD transmission can be avoided by preimplantation genetic diagnosis (PGD). Here, we report the first preimplantation genetic testing case for monogenic disease, in Latvia. The result of our work led to the birth of healthy child with normal HTT alleles in his genome. We describe a PGD strategy and testing algorithm that can be applied to any couple at risk of transmitting monogenic disease.
  • No Thumbnail Available
    Item
    First Report on the Latvian SARS-CoV-2 Isolate Genetic Diversity
    (2021) Zrelovs, Nikita; Ustinova, Monta; Silamikelis, Ivars; Birzniece, Liga; Megnis, Kaspars; Rovite, Vita; Freimane, Lauma; Silamikele, Laila; Ansone, Laura; Pjalkovskis, Janis; Fridmanis, Davids; Vilne, Baiba; Priedite, Marta; Caica, Anastasija; Gavars, Mikus; Perminov, Dmitry; Storozenko, Jelena; Savicka, Oksana; Dimina, Elina; Dumpis, Uga; Klovins, Janis; Rīga Stradiņš University
    Remaining a major healthcare concern with nearly 29 million confirmed cases worldwide at the time of writing, novel severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has caused more than 920 thousand deaths since its outbreak in China, December 2019. First case of a person testing positive for SARS-CoV-2 infection within the territory of the Republic of Latvia was registered on 2nd of March 2020, 9 days prior to the pandemic declaration by WHO. Since then, more than 277,000 tests were carried out confirming a total of 1,464 cases of coronavirus disease 2019 (COVID-19) in the country as of 12th of September 2020. Rapidly reacting to the spread of the infection, an ongoing sequencing campaign was started mid-March in collaboration with the local testing laboratories, with an ultimate goal in sequencing as much local viral isolates as possible, resulting in first full-length SARS-CoV-2 isolate genome sequences from the Baltics region being made publicly available in early April. With 133 viral isolates representing ~9.1% of the total COVID-19 cases during the "first coronavirus wave" in the country (early March, 2020-mid-September, 2020) being completely sequenced as of today, here, we provide a first report on the genetic diversity of Latvian SARS-CoV-2 isolates.
  • No Thumbnail Available
    Item
    Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing
    (2018-08-01) Volozonoka, Ludmila; Perminov, Dmitry; Korņejeva, Liene; Alkšere, Baiba; Novikova, Natālija; Pīmane, Evija Jokste; Blumberga, Arita; Kempa, Inga; Miskova, Anna; Gailīte, Linda; Fodina, Violeta; Scientific Laboratory of Molecular Genetics; Department of Obstetrics and Gynaecology
    Purpose: To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. Methods: Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out. A total of 62 embryos were retrieved from nine couples with a confirmed single gene disorder being transmitted in their family with various inheritance traits—autosomal dominant (genes—ACTA2, HTT, KRT14), autosomal recessive (genes—ALOX12B, TPP1, GLB1) and X-linked (genes—MTM1, DMD). Whole genome amplification (WGA) for the day 5 embryo trophectoderm single biopsies was carried out by multiple displacement amplification (MDA) or polymerase chain reaction (PCR)-based technology OmniPlex and was used for direct (Sanger sequencing, fragment size analysis, SNaPshot) and indirect mutation assessment (STR marker haplotyping), and embryo aneuploidy testing by array comparative genome hybridization (aCGH). Results: Family haplotyping revealed informative/semi-informative microsatellite markers for all clinical cases for all types of inheritance. Indirect testing gave a persuasive conclusion for all embryos assessed, which was confirmed through direct testing. The overall allele dropout (ADO) rate was higher for PCR-based WGA, and MDA shows a better genomic recovery scale. Five euploid embryos were subjected to elective single embryo transfer (eSET), which resulted in four clinical pregnancies and birth of two healthy children, which proved free of disease causative variants running in the family postnataly. Conclusions: A developed multifactor PGT protocol can be adapted and applied to virtually any genetic condition and is capable of improving single gene disorder preimplantation genetic testing in a patient-tailored manner thus increasing pregnancy rates, saving costs and increasing patient reliability.
  • No Thumbnail Available
    Item
    VARIATION OF SERUM VITAMIN B12 LEVEL IN THE BLOOD FROM PATIENTS OF DIFFERENT AGE AMONG THE LATVIAN POPULATION
    (2024-04-01) Gavars, Didzis; Perminov, Dmitry; Tauckels, Eriks; Lindenberga, Ilze; Miķelsone, Agnese; Auce, Agris
    The reference intervals and median values of serum vitamin B12 level in blood from patients among the Latvian population were established for different age groups with a two-year step using data for a large number of patients, accumulated in E. Gulbis Laboratory in Latvia. The data represents the general population of Latvia. An indirect in silico method, developed in E. Gulbis laboratory for determination of serum vitamin B12 blood level reference intervals, was used. Strong elevation of serum vitamin B12 blood level was observed in children who were between 2 and 10 years old. The paper discusses the serum vitamin B12 values for children and a different serum vitamin B12 reference interval for young children is suggested.