Diagnostics of genetic predication for cardio-vascular defects



The relationship of higher risk of emerging cardio-vascular defects (CVD) with mutations of a number of genes has been revealed: 

Potential gene Description of genetic polymorphism Diseases with which polymorphism is associated
Gene of converting enzyme angiotensine I - (ACE) Insertion/deletion of Alu-element out of 286 nucleotide pairs in gene inthrone 16 (ACE/ID) Myocardial infraction, ischemic cardiac defect, acute renal insufficiency in people suffering from diabetes mellitus
Gene of adrenoreceptor beta-1 (ADR beta 1) Change of serine for glycine in position 49 (Ser49Gly). Individual sensitivity to beta-adrenoblockers
Gene of apolypoprotein E (apoE) Three basic protein isoforms (apoE2, -E3 and E4) identified by means of electrophoretic focus and are coded by three alleles. E3 is the most widely spread isoform. E4 is different from E3 in the change of cystine for arginine in position 112 of polypeptide (Cys112Arg). E2 is different from E3 in one of four mutations: E2 (Arg158Cys), E2 (Lys146Gln), E2 (Arg145Cys) and E2 (Arg136Ser). Family disbetalipoproteinemias, hyperlipoproteinemias of type III and V, xanthomatosis, artherosclerosis and ischemic cardiac defect, Alzheimer's disease
Gene of surface thrombocyte receptor (GPIIb/IIIa) Change of cytosine for thymidine in nucleotide position 1565, leading to the change of leucine for proline in the position of sub-unit 33 GPIIIa (PIA2). Thromboembolic complications under acute coronary syndrome, sudden death to coronary thrombosis, post-angioplastic thromboses, neonathal thrompocytopenia
Gene of methylentetrahydrofolatreductase (MTHFR) Change of cytosine for thymine in position 677 (677C-T) leading to the change of alanyne for valine in the position of polypeptide 222. Atherosclerosis, myocardial infraction, pre-eclampsia in the pregnant, defects in the development of nervous system., occurrence of labium leporium and uranoschisis in the newly-born.
Gene of chemocine receptor (CCR2) Change of guanine for adenine in position 190 of gene coding area leading to the change of valine for isoleucine in position 64 by aminoacid protein sequence (V64I). Myocardial infraction, unstable stenocardia, resistance to HIV.

It is offered to use these and other genetic markers for optimisation of profilactics and treatment of CVD from the birth.

Figure and Caption

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Fbionet/requency of allele CCR2 64I in men with acute coronary syndrome

Technical-Economic Advantages

Cardio-vascular defects are of leading position in mortality rate and invalidisation of population in industrially developed countries. According to the registration list of myocardial infraction (program VOZ MONICA), the disease rate was 16.9 cases per 1000 men aged 55-64 and mortality rate - 526.1 per 100 000 in Novosibirsk in 1996. The applied diagnostic methods of cardio-vascular defects are little informative, give ambiguous results and are poorly suitable for the prognosis of diseases.

Fields of Application




choosing potential employees

Level and Location of Practical Realisation

Clinic laboratories of hospitals, polyclinics, medic-genetic consultations, etc.


There is a positive decision of the "RosPatent(s)" (Russian Patent(s)) for giving the Patent(s) on the way of diagnostics of genetic predisposition for myocardial infraction in men by means of genotyping polymorphism V64I of gene CCR2 (Application N 2001106383, 06.03.01). RosPatent(s) also took the decision on giving the Patent(s) for the original way of determining gene alleles of chemocromatine receptor CCR2 on polymorphic site V64I assisted with allele-specific PCR (Application N 2001106928, 14.03.01)

Commercial Proposals

ICG SB RAS sets agreements with institutions of practical healthcare for working out methods of analysing already known and newly found genetic markers associated with CVD, analyses on patients genotypisation and also training personnels.

Price List

One analysis is 10$


Nikolai S. Yudin, 
Institute of Cytology and genetics, 
10 Lavrentiev ave., 
Novosibirsk, 630090, Russia 
Phone: +7(383) 333-31-18 
Fax: +7(383) 333-12-78 
E-mail: kiseleva@bionet.nsc.ru