[Use of recombinant DNA technics in the diagnosis of hereditary diseases]

Recombinant DNA techniques, referred to as genetic engineering or gene manipulation, are used to advantage in medicine for the preparation of hormones, vaccines, immunomodulators, and diagnostic preparations. They enable to introduce new, highly effective diagnostic tools particularly for the identification of defects in the human genome at molecular level. They present methods of direct analysis of genetic material, even without preceding knowledge on the biochemical mechanism of the disease. The aim of the presented paper was to elucidate the substance of direct gene analysis and of indirect analysis by means of genetic linkage, the use of DNA probes and the phenomenon of restriction of fragment length polymorphism (RFLP). The paper gives a concise view on the present state of the problem worldwide as well as on the situation in the Slovak Socialist Republic. (Tab. 1, Fig. 7, Ref. 24.)