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Research Institute of Medical Genetics SB RAMS
Address:
10 Nab. Ushaiki, Tomsk 634050, RUSSIA
Phone:
Приемная директора:
+7 (3822) 51-22-28;

Генетическая клиника
Адрес:
г.Томск, Московский тракт, 3 Регистратура:
+7 (3822) 53-05-37

Fax: +7 (3822) 51-37-44

Яндекс.Метрика





 

Laboratory of Cytogenetics

Dr. Igor N. Lebedev

Professor Sergey A. Nazarenko

 
The Laboratory was organized by Professor Sergey Andreevich Nazarenko (1949-2005) an outstanding Russian cytogeneticist in 1982.
 
Headed by  Professor RAN Igor Nikolaevich Lebedev, Doctor of Biological Sciences
 

        Main research fields:

  • Study of etiology and pathogenesis of chromosomal diseases; 
  •  Development of molecular cytogenetics methods for diagnostics of chromosomal pathology and applying them in medical practice;
  • Cytogenetics of human embryo development, analysis of the spectrum and frequency of  chromosomal mutations associated with pathology of the prenatal development;
  •  Investigation of the role of epigenetic regulation abnormalities in development of hereditary diseases and embryo pathology;
  •  Study of nuclear-chemical industry factors which can effect on genetic health of staff and people living at adjacent territories.

  Main research fields:

  • Siberian populations have been characterized by some types of chromosomal polymorphism;
  • Regional prevalence of different types of chromosomal abnormalities has been studied in children with congenital malformations, couples with miscarriages, patients with sterility and abnormal sexual development;
  • Advanced methods of molecular cytogenetic diagnostics of chromosomal diseases, such as fluorescent in situ hybridization (FISH), chromosomal in situ suppression (CISS), and comparative genome hybridization (CGH) have been developed and implemented in practice.
  • These technologies have been used to describe a series of rare chromosome syndromes, to map cell-cycle-control СDC2 gene and the hereditary genodermatosis Keratosis pilaris gene; 
  • Prenatal molecular cytogenetic diagnostics of fetus chromosome abnormalities has been organized; this diagnostics prevents the birth of children with chromosome pathology;  
  • Bank of DNA and tissues samples of spontaneously aborted embryos and fetuses with malformations has been collected;
  • Selective significance of the structural and functional polymorphism of chromosomes in the prenatal development has been evaluated. The structure of lethal chromosomal mutations in the embryo development has been described. The significance of mutations of microsatellite DNA (SSRs) and imprinted genome loci to etiology of miscarriages has been determined;
  • The data on the spectrum and frequency of molecular abnormalities of imprinted loci genome in hereditary diseases has been obtained. Approaches to analysis of genotype- phenotype correlations in genomic imprinting diseases have been developed. Classification of epigenetic human diseases has been proposed;
  • Quantitative mechanisms of chromosomal nondisjunction in somatic human cells have been studied. A new test system of molecular cytogenetic analysis for chromosome number abnormalities have been proposed and patented.

Laboratory of Cytogenetics assists practical medicine in the following fields:

  • Implementation of the high-resolution diagnostics in complex cases of chromosomal pathology (microdeletion and microduplication syndromes, translocations, marker and supernumerary chromosomes) using modern methods of molecular cytogenetic analysis such as FISH, CISS, CGH;
  • Prenatal molecular cytogenetic diagnostics of numeric and structural chromosomal abnormalities in fetus cells;
  • Molecular cytogenetic diagnostics (FISH, CGH) of chromosomal mutations in oncologic diseases;
  • Developmet of fluorescent DNA probes sets for molecular cytogenetic studies;
  • Molecular diagnostics (including prenatal) of trinucleotide repeat expansion diseases and diseases of genomic imprinting;
  • Cytogenetic analysis of spontaneous abortions in patients with miscarriages.

 



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