[Possibilities and prospects of the use of DNA analysis in the diagnosis and prevention of inherited disease in the Ukraine].
The results from molecular genetic analysis of some mutations in the 10th and 11th exons of cystic fibrosis transmembrane regulator (CFTR) gene as well as of deletions in the 8, 17, 19, 43, 50, 60th exons of dystrophin gene in 61 CF-families and 21 DMD-families from different Ukraine regions are presented. It was shown that delta F508 frequency of CF-patients was 59.2%, the frequencies of S5491, G551D and K533X were about 1%. The frequency of delta F508-carriers analysed among 365 healthy donors from different regions of Ukraine was 1:40. The analyzed deletions of dystrophin gene were revealed only among 6 DMD-patients. The associations of analyzed mutations of CFTR gene and DMD-gene with RELP's in 4 loci of chromosome 7 and 2 loci of X-chromosome, respectively, were found. The results of prenatal diagnosis of cystic fibrosis and DMD are presented.
D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000032:analysis*; D016189:Dystrophin / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control*; D009154:Mutation / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014455:Ukraine / Q000453:epidemiology; D014960:X Chromosome
C505032:CFTR protein, human; D016189:Dystrophin; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA
Mozhlyvosti ta perspektyvy vykorystannia analizu DNK dlia diagnostyky ta profilaktyky spadkovykh zakhvoriuvan' v Ukraïni.