Avtor/Urednik		Ravnik-Glavač, M; Komel, R; Peterlin, B; Pignatti, PF; Štrukelj, M; Canki-Klain, N; Cerar, V; Debevec, M
Naslov		Določanje informativnosti in prenatalna diagnostika cistične fibroze z metodo PCR
Prevedeni naslov		Determination of informativity and prenatal diagnosis of cystic fibrosis with PCR method
Tip		članek
Vir		Zdrav Vestn
Vol. in št.		Letnik 61, št. 4
Leto izdaje		1992
Obseg		str. 203-6
Jezik		slo
Abstrakt		Background. Cystic fibrosis is an autosomal recessive genetic disease with a frequency of 1 in 2000 live births. For detecting the most common mutation, which accounts for about 46 per cent of the mutations in the Southern European population and causes the severe form of cystic fibrosis, the direct method is used in genetic diagnosis. For other forms of this disease, for which no general common mutarion has yet been found, the indirect method is still used in diagnosis. Methods. For indirect DNA analysis in the diagnostics of cystic fibrosis Southern DNA analysis and the DNA polymerase chain reaction were used. Results. By means of the polymerase chain reaction information on two families with cystic fibrosis was determined from the decomposed DNA of the children. This also made possible a later prenatal diagnosis, using the same method. Conclusion. The new method described provides new possibilities for research in the feld of recombinant DNA technology and makes possible simplification and acceleration of diagnostic procedures in inherited diseases with the use of DNA molecular analysis.
Deskriptorji		CYSTIC FIBROSIS PRENATAL DIAGNOSIS POLYMERASE CHAIN REACTION DNA PREGNANCY