title: [Genetic study in 8 families with a child with cystic fibrosis].
abstract: Cystic Fibrosis (CF) is the most common genetically determined disease in Caucasians. Major advances in our understanding of the genetics of cystic fibrosis have occurred during the past couple of years. The CF gene has been localized at 7 q31 by the use of linkage analysis with protein and DNA polymorphisms. DNA probes showing close linkage to the CF gene have been discovered and are being used to identify the gene itself and also for purposes of genetic diagnosis. We investigated 35 blood samples from members of 8 CF families with the probes J3.11/MspI, metH/TaqI, metH/MspI, metD/TaqI and 7 c22/EcoRI. In 8 out of 11 siblings of our CF patients we got full information about the carrier status. Since we investigated the siblings as well as the parents of our patients, these results may be of benefit for a later prenatal diagnosis.
authors.affiliation: Kinderspital, Landeskrankenanstalten Salzburg.
authors.forename: J
authors.initials: J
authors.lastname: Riedler
authors.forename: E
authors.initials: E
authors.lastname: Arrer
authors.forename: B
authors.initials: B
authors.lastname: Grabherr
mesh_terms: D002648:Child; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors
chemical_list: D015342:DNA Probes; D005819:Genetic Markers
vernacular_title: Genetische Untersuchung bei 8 Familien mit einem Kind mit zystischer Fibrose.