83 -1 (75) 2025 - G.A.Ixtiyarova, D.Sh.Kudratova - CURRENT METHODS OF PREIMPLANTATION GENETIC DIAGNOSIS IN THE REPUBLIC OF UZBEKISTAN

CURRENT METHODS OF PREIMPLANTATION GENETIC DIAGNOSIS IN THE REPUBLIC OF UZBEKISTAN

G.A.Ixtiyarova - Bukhara State Medical Institute named after Abu Ali ibn Sina

D.Sh.Kudratova - Tashkent State Dental Institute Uzbekistan

Resume

Preimplantation genetic diagnosis has existed for more than 20 years, during which time the range of possibilities of assisted reproductive technologies and the potential of molecular genetic diagnosis of single cells have significantly expanded. To date, preimplantation diagnosis has evolved from an experimental procedure to a valid and earliest form of prenatal diagnosis, while expanding the range of indications.   Women of older reproductive age - 35 years and older. Couples with a history of more than three spontaneous early terminations of pregnancy (habitual miscarriage). Men with severe disorders of spermatogenesis - oligoasthenoteratozoospermia, severe oligozoospermia, azoospermia. Couples with repeated unsuccessful IVF attempts - more than three unsuccessful attempts.  Mitochondrial diseases caused by nuclear DNA mutations are transmitted according to Mendelian laws, hence the pattern of PGD should be the same as for monogenic diseases. The inheritance of mitochondrial diseases caused by mtDNA mutations is complicated by heteroplasmy (genetic heterogeneity of the mitochondrial population), different levels of heteroplasmy in different oocytes, random distribution of mtDNA molecules between blastocyst cells, and the fact that the proportion of mutant mtDNA molecules may vary differently in tissues during the development and life of the organism. This has transformed PGD from an experimental procedure to a valid and earliest form of PD, while expanding the range of indications.

Keywords: preimplantation genetic diagnosis; prenatal diagnosis

First page

482

Last page

488

For citation:G.A.Ixtiyarova, D.Sh.Kudratova - CURRENT METHODS OF PREIMPLANTATION GENETIC DIAGNOSIS IN THE REPUBLIC OF UZBEKISTAN//New Day in Medicine 1(75)2025 482-488 https://https://newdayworldmedicine.com/en/new_day_medicine/1-75-2025

List of References

  1. Torjesen I. UK moves a step closer to being first country in world to allow “three parent babies” //BMJ. – 2013g.
  2. Nass M., Mass S. Intramitochondrial fibers with DNA characteristics. I. Fixation and electron staining reactions //J. Cell. Biol. 1963;19:593-611. Https://doi.org/10.1083/jcb.19.3.593.
  3. Chicherin I., Levitskiy S., Krashennikov I. I dr. Perspektivyi gennoy terapii mitohondrialnyih bolezney: BEZ CRISPR/CAS9 ne oboytis? //Vestnik RGMU 2017;3:46-51. Https://doi.org/10.24075/brsmu.2017-03-05
  4. Schatz G., Klima J. Triphosphopyridine nucleotide: cytochrome C reductase of Saccharomyces Cerevisiaea ‘microsomal enzyme //Biochimica et Biophysica Acta. 1964;81(3):448-461. Https://doi.org/10.1016/0926-6569(64)90130-0.
  5. Anderson S. Sequence and organization of the human mitochondrial genome //Nature. 1981;290(5806):457-465. Https://doi.org/10.1038/290457a0.
  6. Andrews R. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA //Nat. Genet. 1999;23(2):147. Https://doi.org/10.1038/13779.
  7. Wolf D., Mitalipov N., Mitalipov S. Mitochondrial replacement therapy in reproductive medicine //Trends Mol. Med. 2015;21(2):68-76. Https://doi.10.1016/j.molmed.2014.12.001.
  8. Voropaeva E., Maksimov B., Malyutina C. Obzor svoystv i metodov issledovaniya mitohondrialnoy DNK. 2016; 14.00.00 meditsinskie nauki (14.03.00 Mediko-biologicheskie nauki) UDK 577.21-07.
  9. Hui-Shan Liu, Pei-Lun Chu. Three-parent embryo: The therapeutic future for inherited mitochondrial diseases //Journal of the Formosan Medical Association. 2014;114:1027-1028. Https://www.researchgate.net/deref/http://dx.doi.org/F10.1016/j.jfma.2014.04.007
  10. Kudratova D.S., Ikhtiyarova G.A., Davlatov S.S. Medical and social problems of the development of congenital malformations during a pandemic //International Journal of Pharmaceutical Research, 2021;13(1):756-760. Https://search.ebscohost.com/login.aspx?Direct=true&profile=ehost&scope=site&authtype=crawler&jrnl=09752366&AN=155803020&h=NOF%2fasaeiwwkfpakinnifkaaehqf1cpylibtth8bppgrsyn31sdvnwsouwp4rsc1ku1q9p0maml3pa%2Fpt6OBOA%3D%3D&crl=c
  11. Kudratova D.S., Karimova G.K., Narzullaeva N.S. (2022). Comprehensive analysis of the causes and risk factors of prenatal causes of fetal anomalies in the Bukhara region. //Conferences 2022; 35-45 pp. http://journals.scinnovations.uz/index.php/aposo/article/view/368
  12. Preimplantation genetic screening in women of advanced maternal age caused a decrease inclinical pregnancy rate: a randomized controlled trial / Handarson T. [et al.] //Hum. Reprod.— 2008;23(12):2806–2812.
  13. Ikhtiyarova G.A., and Kudratova D.Sh. "Optimization of prenatal screening for diagnostics of intrauterine anomlies of fetal development //Journal of ethics and diversity in international communication 2022;8:44-49.
  14. Кудратова Д.Ш. Медико-социальные проблемы развития врожденных пороков в период пандеми //Вестник науки и образования Москва 2020;22(100):3-57.
  15. Ikhtiyarova G.A., and D. Sh Kudratova. "Ecological Risk Factors for Intrauterine Anomalies of Fetal Development." //International journal of health systems and medical sciences 2022;1.4:331-335.
  16. Ikhtiyarova G.A., and Kudratova D.Sh. "Non-Instrumental Risk Predictors of Intrauterine Fetal Malformations." //International journal of health systems and medical sciences 2022;1.4:355-360.
  17. Ikhtiyarova G.A., Kudratova D.S. (2022). Ecological Risk Factors for Intrauterine Anomalies of Fetal Development. //International journal of health systems and medical sciences, 2022;1(4):331-335.
  18. Ikhtiyarova G. A., Kudratova D.S. (2022). Non-Instrumental Risk Predictors of Intrauterine Fetal Malformations. International journal of health systems and medical sciences 2022;1(4):355-360.
  19. Иxтиярова Г., Кудратова Д. (2021). Ранние маркёры диагностики внутриутробных аномалий развития плода. //Журнал вестник врача 2021;1(4):45-50.
  20. Кудратова Д.Ш. (2016). To prevalence among main component of the metabolic syndrome. //Биология и интегративная медицина 2016;(2):62-71.

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