Detección de portadores y diagnóstico prenatal de fibrosis quística en familias españolas utilizando marcadores del ADN.

Translated title of the contribution: Detection of carriers and prenatal diagnosis of cystic fibrosis in Spanish families using DNA markers

M. Baiget, T. Casals, V. Nunes, Xavier P. Estivill

Research output: Contribution to journalArticle

Abstract

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).

Original languageSpanish
Pages (from-to)361-363
Number of pages3
JournalMedicina Clinica
Volume92
Issue number10
Publication statusPublished - 18 Mar 1989
Externally publishedYes

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Prenatal Diagnosis
Genetic Markers
Cystic Fibrosis
Recombinant DNA
Molecular Pathology
Genes
DNA

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Detección de portadores y diagnóstico prenatal de fibrosis quística en familias españolas utilizando marcadores del ADN. / Baiget, M.; Casals, T.; Nunes, V.; Estivill, Xavier P.

In: Medicina Clinica, Vol. 92, No. 10, 18.03.1989, p. 361-363.

Research output: Contribution to journalArticle

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