TEST SYSTEMS FOR REVEALING ALLELES Cys282Tyr, His63Asp AND Ser65Cys OF GENE HFE ASSOCIATED WITH INHERITED HUMAN HEMOCHROMATOSIS

mikhail@.bionet.nsc.ru 

Description

Inherited hemochromatosis (IH) is a human in-born aberration of ferrum metabolism that leads to unregulated accumulation of ferrous pigments in liver, endocrine glands, joints and muscles. In case of untimely diagnostics such pathology leads to the progress of arthritis, myocardiac defects, diabetes, hypogonadism, aberrations in skin pigmentation and, finally, to cerosis and carcinoma of the liver. The disease is easy subject to treatment by means of bloodletting at early stages preceding irreversible affection of inner organs. It is due to this that earlier diagnostics of hemochromatosis or prediction of predisposition to its progress are very important. Common clinical methods do not allow to make this: blood biochemical analyses for ferrum content are not precise; the results may considerably deviate in patients depending on the consumption of alcohol, infections, etc. Liver biopsy allows to reveal the disease at a relatively late stage. Moreover, this method is connected with a certain risk for a patient. It has been established that there are for 50 to 100% of people suffering from IH in the world and they are carriers of allele Cys282Tyr of homozygous gene HFE and mixed heterozygotes on alleles Cys282Tyr and His63Asp, also Cys282Tyr and Ser65Cys. Besides, higher fbionet/requency of allele His63Asp was noticed in chosen groups of patients with ferrum overload syndrome, sporadic skin porphyria and some other diseases. Test systems for revealing these 3 alleles in human genome based on the method for polymorphism of the length of restriction fragments have been worked out.

Technical-Economic Advantages The disease is easy subject to treatment by means of bloodletting at early stages preceding the irreversible affection of inner organs. It is due to this that earlier diagnostics of hemochromatosis or prediction of the predisposition of its progress are of crucial importance. The suggested test systems allow to detect the disease at early stages and to predict the predisposition for its progress unlike all other methods.

Fields of Application

Medicine.

Level and Location of Practical Realisation

Data of the test system are being successfully used at the clinic of the Scientific-Research Institute of Therapy, the Novosibirsk Regional Diagnostic Centre, the Moscow Hematological Scientific Center and Central Clinical Hospital of the Ministry of Connections, Tambov.

Patent(s)

Patent(s) of the Russian Federation RF N 2144566.

Commercial Proposals

License agreement, test system sales, analyses.

Price List

To be determined during negotiations.

Contacts:

Svetlana M. Vladimirova 
630090, Novosibirsk, 
10 Lavrentiev ave. 
Phone: +7(383) 333-31-18 
Fax: +7(383) 333-12-78 
E-mail: mikhail@.bionet.nsc.ru