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2 (87), 2018


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Edition of the journal is supported partially by the grant of the Fogarty International Center (FIC) of the National Institute of Health and Illinois University, Chicago.

JOURNAL

ISSN 2077-7477 (Print)
ISSN 2077-7485 (Online)

A journal "Dovkillia ta zdorovia" (Environment & Health) publishes the articles on the problems in the field of medical ecology, hygiene, health protection and ecological safety.

Founder of the Journal:
State Institution "O.M. Marzeiev Institute for Hygiene and Medical Ecology of the National Academy of Medical Sciences of Ukraine"

Frequency of publication:
quarterly

Environment & HealthISSN: 2077-7477 eISSN: 2077-7485
No: 2 (87)   -   2018   -   Pages: 4-9
Human hereditary pathology and genomic instability
PEDAN L.R.1, HONCHAROVA R.I.2, KACHKO H.O.3, OMELCHENKO E.M.3, TYMCHENKO O.I.3, POKANEVYCH T.M.4, POPOVYCH L.V.5
1 STATE INSTITUTION O.M. MARZEIEV INSTITUTE FOR PUBLIC HEALTH NAMSU
2 INSTITUTE OF GENETICS AND CYTOLOGY, NASB, MINSK, REPUBLIC OF BELARUS
3 STATE INSTITUTION O.M. MARZEIEV INSTITUTE FOR PUBLIC HEALTH NAMSU
4 KYIV REGIONAL CENTER FOR MATERNAL AND CHILD HEALTH PROTECTION
5 ZHYTOMYR OBLAST DIAGNOSTIC CENTER, ZHYTOMYR

SUMMERY:
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.


KEYWORDS:
hereditary pathology, chromosomal instability, congenital malformations in the newborns.
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