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616-071:577.1/2(478) (1) |
Patologie. Medicină clinică (6963) |
Bazele materiale ale vieții. Biochimie. Biologie moleculară. Biofizică (664) |
SM ISO690:2012 SACARĂ, Victoria, LEVIŢCHI, Alexei, GROPPA, Stanislav. Diagnosticul molecular-genetic în Republica Moldova: istoria şi perspective.. In: Buletin de Perinatologie, 2016, nr. 1(69), pp. 20-26. ISSN 1810-5289. |
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Buletin de Perinatologie | |||||||
Numărul 1(69) / 2016 / ISSN 1810-5289 | |||||||
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CZU: 616-071:577.1/2(478) | |||||||
Pag. 20-26 | |||||||
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The first group of specialists in molecular genetics included two assistant researchers. It was created in frame of the department for hereditary patologies of the Scientific Research Institute of Mother and Child healthcare, under the leadership of the doctor Amoashii D., PhD, twenty five years ago. Major influence on the training of the moldavian young specialists played members of the Laboratory of Prenatal Diagnostic (leaded by Preofessor Baranov B.S., corresponding member of the RAMS) from Scientific Research Institute of obstetrics and gynecology D.O. Otto, Sankt-Petersburg, Russian Federation, head of the laboratory, professor Barbacari N. from the Institute of Genetics ASM. First molecular genetics tests in Moldova (since 1992) were realized to detect mutations and analyze populational aspects of the polymorphism of two genes determining monogenic pathologies – Duchenne myodystrophy (Sacara V.) and haemophilia A and B (Romanova L.), phenylketonuria (Gavriliuc А.) and cystic fibrosis (Gimbovskaya S.), spinal muscular atrophy (Sacara V.). In 1997, under the leadership of the professor Groppa St., the national program ”Improvement of the medical genetic service in Republic of Moldova. 1998-2005” was elaborated and later approved by the Ministry of Health, The program contained main strategies of regionalization and optimization of the medical genetic service structure, including the objective of the deepening of the molecular genetic investigations. As an entity in frame of the National Center of Reproductive Health and Medical Genetics, the laboratory of Human Molecular Genetics appeared in 2009. From 2010, there started the development of candidate genes allelic variants detection methods. Hereditary predisposition to frequent chronic diseases are determined by various genes, target ones being: MTHFR, MTRR, MTR, CBS, FV, FII, FXIII, VKORCI, GpIIIaL33P, PAI-1, GSTM, GSTT, GSTP, ACE, eNOS, ApoB, ApoE, HLA DQA1 and DQB1. Genes with modification effects (MTHFR, MTRR, MTR, eNOS) were investigated for their role and association in case of DMD/B that helped in improvement of pathogenetic stages explanation of the abnormal processes, but also to develop a personalized approach in the treatment. Research investigations were supported through the governmental grants, provided through ASM, and international grants provided by MRDA, BMBF, DAAD and other funds. These support contributed to the skill development and experience gain in leading laboratories in Europe and USA. |
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Cuvinte-cheie molecular genetic diagnostics, rare diseases, Gene, allele |
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