DNA-diagnostics of mucoviscidosis

kiseleva@bionet.nsc.ru 

Description

It is offered to reveal small deletions in gene CFTR DF508, DI507 and del 1677 by means of direct electrophoretic division of polymerase chain reaction (PCR) products in polyacrylamide gel. It is offered to use the method of allele-specific PCR for differential diagnostics of mutation ?F508, when the mutation is revealed on the presence or absence of PCR-product under amplification with the primer that contains or does not contain the deletion.

Technical-Economic Advantages

Mucoviscidosis is one of the most spread inherited diseases. There is 1 per 2000 born with mucoviscidosis on the average in Russia. Treatment of one child costs about 10 000$ a year. The methods being worked out will allow to predict the birth of an ill child.

Field of Application

Medicine.

Level and Location of Practical Realisation

Clinic laboratories of hospitals, polyclinics, medical-genetic consultations, maternity houses, centres for family regulation, etc.

Patent(s)

Authorship rights for the way of diagnostics of mucoviscidosis using allele-specific PCR are protected by the Patent(s) of the Russian Federation N 2151188, 16.06.1999.

Commercial Proposals

ICG SB RAS sets agreements with institutions of practical healthcare on working out the methods of analysing the complete range of mutations in gene CFTR for diagnostics of mucoviscidosis, clinic tests and also training personnels.

Price List

One DNA analysis is about 10$.

Contacts:

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