|Environment & Health||ISSN: 2077-7477 eISSN: 2077-7485
No: 2 (87) - June, 2018 - Pages: 4-9
Human hereditary pathology and genomic instability
Pedan L.R.1, Goncharova R.I.2, Kachko H.O.1, Omelchenko E.M.1, Tymchenko O.I.1, Pokanevych T.M.3, Popovych L.V.4
1 State Institution "O.M. Marz³eiev Institute for Public Health of the NAMSU"
2 Institute of Genetics and Cytology, NAS of Belarus, Minsk
3 Kyiv Regional Center for Maternal and Child Health Protection
4 Zhytomyr Regional Diagnostic Center
ÓÄÊ: 575.22 (616)
Objective: We estimated the value of chromosomal instability as a factor that caused the congenital or hereditary diseases.
Materials and methods: We analyzed160295 cases (statistical data of the Ministry of Public Health of Ukraine, F. 49 “Report of Medico-Genetic Center (consultations, cabinet)” in 2000-2015; 2090 cases (monitoring data, performed in Kyiv oblast) in 1999-2003 and 2009-2015; 6899 cases (monitoring data of medico-genetic department of the diagnostic center of Zhytomyr oblast) in 1998 -2015.
Results: In Ukraine, the multiple congenital malformations are diagnosed from year to year which really hide undiagnosed syndromes, such as the Nijmegen, Louis Bar syndromes and many others. In general, the cases of chromosomal instability syndromes were single, and the structure of multiple congenital malformations at the whole territory of Ukraine was in the range of 3.5-4.6 % (according to the data of F. 49 Ministry of Public Health of Ukraine)in 2000-2015, in Kyiv oblast – up to 7 % (according to the data of genetic monitoring)in 1999-2003 and 2009-2015, in Zhytomyr oblast – up to 17 % (according to the data of medico-genetic department of the diagnostic center in Zhytomyr oblast) in 1998-2015.
Conclusions : In the course of the research, it was confirmed that the chromosomal instability may have been a possible remote effect of radiation exposure which had been previously established in the field and experimental studies. The Fanconi anemia, ataxia telangiectasia, the Bloom, Nijmegen, Cocaine syndromes and pigmented xeroderma, as well as the Werner's syndrome, fall in the hereditary diseases united in to a group of the syndrome of chromosomal instability (SCI). Taking into account a low level of hereditary diseases, united into the SCI group, the research of the remote effects of chromosomal instability require the further deepening of the analysis with the consolidation of temporal and spatial characteristics.
hereditary pathology, chromosomal instability, congenital malformations in the newborns
1. Savina N., Goncharova R., Kuzhir Ò. and Nikitchenko N. ; Goncharova R. (ed.). Genomnaya nestabilnost I narushenie reparatsii DNK kak factory nasledstvennoy I somaticheskoy patologii cheloveka [Genomic Instability and Disorder of DNA Reparation as a Factor of Hereditary and Somatic Pathology in Human]. Minsk :Belaruskaya navuka ; 2015 : 282 p. (in Russian).
2. Havryliuk Yu.Y., Sozanskyi Î.Î., Akopian G.R., Lozynska Ì.R., Siedneva ².À., Hlinka P.À., Yavorivska Î.Ì. and Hrytsiuk ².². Cytology and genetics. 1992 ; 26 (4) : 15-20 (in Ukrainian).
3. Polityko A.D. et al. Metod tsytogeneticheskoy diagnostiki anemii Fankoni : Instruktsiya po primeneniyu [Method for Cytogenetic Diagnosis of the Fanconi Anemia: Instruction for Use]. In : Sovremennye metody diagnostiki, lecheniya I profilaktiki zabolevaniy [Modern Methods of Diagnosis, Treatment, and Prophylaxis of Diseases]. Minsk ; 2008 ; 9 (2) : 79-97 (in Russian).
4. Knoch J., Kamenisch Y., Kubisch C. and Berneburg M. Eur. J. Dermatol. 2012 ; 22 (4) : 443-455.
5. Belev N.F. Rol geneticheskikh faktorov v etiopatogeneze raka tolstoy kishki [The Role of Genetic Factors in Large Intestine Cancer Ethiopathogenesis]. In : Materialy III sezda onkologov I radiologov SNG [Materials of Congress III of the CIS Oncologists and Radiologist]. Minsk ; 2004 ; 1 : 64-68 (in Russian).
6. Melnov S.B. Molekuliarno-geneticheskie I fenotipicheskie effekty antropogennykh mutagennykh vozdeistviy u cheloveka : avtoref. diss. …doctor biol. nauk [Molecular-and-Genetic and Phenotypical Effects of the Anthropogenic Mutagenic Impacts in a Human : Doctor of Biology Dissertation Author’s Abstract]. Minsk ; 2004 : 45 p. (in Russian).
7. Riabchenko N.N. Induktsionno indutsirovannaya nestabilnost genoma cheloveka [Radiation Induced Instability of Human Genome]. In : Problemy radiatsiinoi medytsyny ta radiobiolohii [Problems of Radiation Medicine and Radiobiology]. Êyiv ; 2014 ; 19 : 48-58 (in Russian).
8. Vorobtsova S. Å., Vorobiova Ì.V., KorytovaL.I. and Shust V.F. Cytology. 1995á ; 37 (5-6) : 449-457 (in Russian).
9. Pedan L.R. and Pilinska Ì.À. Resultaty doslidzhennia radiatsiino indukovanoho in vitro tsytohenetychnoho efektu u likvidatoriv Chornobylskoi avarii, yaki perekhvorily na hostru promenevu khvorobu [Results of the Research of Radiation Induced in vitro Cytogenetic Effect in the Liquidators of the Chornobyl Accident that Got Sick with Acute Radiation Sickness]. In : Problemy ekolohichnoi ta medychnoi henetyky I klinichnoi imunolohii [Problems of Ecological and Medical Genetics and Clinical Immunology]. Kyiv-Luhansk-Kharkiv ; 2004 ; 1 (54) : 31-38 (in Ukrainian).
10. Kachko G.J., Omelchenko E.M., Pedan L.R. and Polka O.O. Deutscher Wissenschaftsherold (German Science Herald). 2017 ; 2 : 41-43.