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Detection of carriers and prenatal diagnosis of cystic fibrosis in Spanish families using DNA markers

Baiget, M.; Casals, T.; Nunes, V.; Estivill, X.

Medicina Clinica 92(10): 361-363

1989

ISSN/ISBN: 0025-7753
PMID: 2716384
Document Number: 347330
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).

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