Uplatnenie analýzy DNA v diagnostike a prevencii hemofílie A.

Hemophilia A belongs to the monogenically determined diseases. The methods of molecular genetics (recombinant DNA) have greatly contributed both to the elucidation of the genetic basis of these diseases and to the elaboration of effective preventive approaches either by prenatal genetic diagnosis or by detection of heterozygous transmitters. The authors present a short survey of the results in the field of genetic research of hemophilia A at molecular level achieved over the last years and they report on their own results of DNA analysis in 15 families with the occurrence of the disease. Of 17 potential subjects transmission was excluded in 10 and confirmed in 7 cases. The importance of early and complete detection of families with the occurrence of hemophilia A is emphasized particularly in the light of effective prevention.