Author/Editor		Komel, Radovan
Title		Genetske bolezni in genska preiskava
Translated title		Genetic disease and genetic testing
Type		članek
Source		Proteus
Vol. and No.		Letnik 60, št. 8
Publication year		1998
Volume		str. 344-56
Language		slo
Abstract		Genetic diseases result from changes in gene structure and function. These are produced by mutations with extensive changes in the structure or numbers of chromosomes. In addition to inherited changes, there is a great number of genetic malformations which may occur during a lifetime as well as multifactorial diseases in which a genetic component and/or inheritance may contribute significantly. Because of the great progress in gene technology and molecular genetics, DNA-based tests have become the diagnostic methods of choice in a number of monogenic diseases, and information on the molecular pathology of the polygenic and multifactorial disorders is constantly increasing.
Descriptors		HEREDITARY DISEASES MUTATION GENETIC TECHNIQUES CHROMOSOME ABERRATIONS DNA BLOTTING, SOUTHERN POLYMERASE CHAIN REACTION DNA PROBES POLYMORPHISM, RESTRICTION FRAGMENT LENGTH