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SM ISO690:2012 SACARĂ, Victoria, COLIBAN, Iulia, SECU, Doina, BOICIUC, Victoria, BOICIUC, Constantin, DORIF, Alexandr. Realizările în domeniul diagnosticului molecular-genetic pe parcursul a 40 de ani în cadrul Institutului Mamei și Copilului . In: Buletin de Perinatologie, 2022, nr. 1(93), pp. 143-146. ISSN 1810-5289. |
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Buletin de Perinatologie | ||||||
Numărul 1(93) / 2022 / ISSN 1810-5289 | ||||||
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CZU: 061.6:618+575:61 | ||||||
Pag. 143-146 | ||||||
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The first group of specialists in molecular genetics was created in frame of the department for hereditary pathologies of the Scientific Research Institute of Mother and Child healthcare in 1989-1990. First molecular genetics tests in Moldova (since 1992) were realized to detect mutations in monogenic pathologies – Duchenne myodystrophy and hemophilia A and B, phenylketonuria and cystic fibrosis, spinal muscular atrophy. 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 is 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. Currently, the laboratory can perform molecular diagnosis for the following diseases: PKU (Phenylketonuria), CFTR (Cystic Fibrosis), AZF (azospermia), GALT (galactosemia), MECP2 (Rett Syndrome), ALDOB (fructosemia), WD (The Wilson), AKU (Alkaptonuria), DMD (Duchenne Muscular Dystrophy), Celiac Disease, mitochondrial diseases (MELAS, Leigh, LHON, NARP and MERRF Syndromes), SMA (Spinal muscular atrophy), CLCN1 (Thomsen mytonia), SCA (Friedreich’s ataxia), FMR1 (Fragile X syndrome), AFF2 (X-efra syndrome), PMP22 (CharcoMarie Touth 1a), AZF (azospermia). Research investigations were supported through the governmental grants, provided through ASM [SCREENGEN, Cipher: 20.800009.8007.22, Contract 22-PS, 03.01.2022)] , and international grants provided by MRDA, BMBF, DAAD and other funds. This 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, молекулярно-генетическая диагностика, редкие заболевания, ген, Аллель |
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