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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 Hereditary Pathology

Professor  Ludmila P. Nazarenko

 
Established in 1989. Headed by Professor Ljudmila Pavlovna Nazarenko, Doctor of Medical Sciences, Honored Physician of the Russian Federation.
 
 
          Main research fields:
  • Study of the load of hereditary pathologies in Siberian populations and mechanisms of its formation;
  • Characteristic of the spectrum of main mutations in “pathological" genes and study of polymorphism of genome loci associated with hereditary pathology in the Siberian region;
  • Promotion of fundamentals of medical genetic consultation on the local level and adoption of gene diagnostics in medical practice.
The Laboratory applies advanced technologies of genome fragment amplification and different methods of DNA fragments electrophoresis, which allow detection of various mutations and investigation of gene variation by RFLP, VNTR, and STR markers; analysis of variable dinucleotide repeats with the use of fluorescent labeled oligonucleotide primers on ABI PRISM 310 analyzer. The methods are used for medical genetic consultation and diagnostics of common forms of hereditary pathology.

 

The following forms of monogenic human pathology can be diagnosed:
  • Phenylketonuria (12q24.1);
  • Cystic fibrosis (7q31.2);
  • Hemophilia A (Xq28);
  • Hemophilia B (Xq27.1-q27.2);
  • Duchenne muscular dystrophy (Xp21.2);
  • Spinal muscular amyotrophy (SMA) (5q12.2-q13);
  • Von Willebrand disease (12p13.3-p13.2);
  • Hereditary hemochromatosis (6p22);
  • Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth disease) (17p11.2, 1q22-q23, Xq13.1);
  • Hereditary neuropathy with to pressure palsies (17p11.2).

Dr. Olga N. Odinokova

Main results:

• General mechanisms of the load of Mendelian hereditary diseases in Slavic population of Western Siberia and Tuvinians, Yakuts, and Altaians, have been determined;
• Peculiarities of the spectrum and spreading of Mendelian hereditary diseases in the Slavic (the Tomsk Region) and indigenous populations of Siberia (Tuvinians, Yakuts, and Altaians) have been studied;
• Basic frequencies of congenital malformations in children of the Tomsk Region, Republics of Tuva, Sakha (Yakutiya), Altai, and Khakassiya have been assessed;
• “Tomsk Genetic Registry” has been organized; this registry contains information on more than 4000 families with hereditary and congenital pathology;
• Diagnostic algorithm “Hereditary Aminoacidopathies” has been developed; Russian (Diagen, Khrodis, Singen, SinDiag, NBO) and foreign (POSSUM, London Database, Neurological Syndromes) diagnostic systems have been applied in the medical practice;
• DNA bank from patients with hereditary pathology has been collected;

 

Laboratory staff

Scientific and diagnostic investigations are carried out in cooperation with physicians of medical genetic consultations of the Siberian region (Novosibirsk, Omsk, Barnaul, Krasnoyarsk, Vladivostok, Novokuznetsk, Yakutsk, Kyzyl, Ekaterinburg, Kemerovo, Tyumen, etc.) 

More than 30 research expeditions have been organized in different regions of Siberia (Tomsk Region, Republics of Tuva, Sakha (Yakutiya), Altai, Khakassiya, and Buryatiya).

Jointly with the Genetic Clinic, a test system has been developed for external control quality of cytogenetic investigations for institutions of the medical genetic service.
The Laboratory serves as an educational base for training specialists in the field of medical genetics. 


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