[Use of molecular DNA probes in the diagnosis of mucoviscidosis-- analysis of restriction fragment length polymorphisms (RFLP) in 22 high-risk families].
The results of DNA analysis with the aid of specific molecular probes are discussed. DNA analysis involved 22 families of a high risk of cystic fibrosis. A significance of the obtained results in genetic counselling is also discussed. DNA analysis enabled detection or exclusion of cystic fibrosis gene carrier state in patient's relatives. DNA analysis proved fully informative in case of 17 families being a base to offer these families prenatal diagnosis of the disease in the I trimester of pregnancy, if such a family plans conception, and to accept this diagnostic technique.
Zakładu Genetyki Instytutu Matki i Dziecka.
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Mazurczak
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors
D015342:DNA Probes
Zastosowanie sond molekularnych DNA w diagnostyce mukowiscydozy--analiza polimorfizmu długości fragmentów restrykcyjnych (RFLP) w 22 rodzinach wysokiego ryzyka.