[Detection of carriers and prenatal diagnosis of cystic fibrosis in Spanish families using DNA markers].
A molecular study of 36 Spanish families with cystic fibrosis (CF) patients is reported. The analysis of seven DNA polymorphisms adjacent to the CF gene permitted the diagnosis of 95% of the probable carriers and the antenatal diagnosis in the seven cases in which it was requested. The application of recombinant DNA techniques to the study of CF by means of the analysis of DNA markers linked to the CF gene is useful, not only to identify the latter, but also as a reference to investigate its molecular pathology and for diagnostic purposes in high risk families (families with involved members).
Baiget
M
M
Casals
T
T
Nunes
V
V
Estivill
X
X
D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005819:Genetic Markers; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013030:Spain
D015342:DNA Probes; D005819:Genetic Markers
Detección de portadores y diagnóstico prenatal de fibrosis quística en familias españolas utilizando marcadores del ADN.