Prevention of cystic fibrosis in Italian families by DNA studies.

M. Ferrari, L. Cremonesi, L. Ruocco, A. Giunta, L. Curcio, B. Brambati, G. Cozzi, S. Russo, M. Seia, L. Piceni Sereni

Research output: Contribution to journalArticle

Abstract

We performed a feasibility study of prenatal diagnosis in the Italian population by DNA analysis utilizing the probes: metD, metH, J3.11, KM.19 and XV-2c. With these probes, 118 out of 126 families (93.7%) were fully informative. We also tested part of the families with new additional tightly linked probes, E.9 and W3D1.4. With all the probes feasibility was complete in 44 out of 45 families (97.8%). In particular with a set of only 3 tightly linked probes, KM.19 + XV-2c + W3D1.4, 71% of the families were fully informative. We carried out 8 prenatal diagnoses, 4 of which with the polymerase chain reaction (PCR) for KM.19. These data show that these probes are highly informative and can be used for feasibility studies and prenatal diagnosis of CF in the Italian population.

Original languageEnglish
Pages (from-to)105-107
Number of pages3
JournalActa Universitatis Carolinae Medica
Volume36
Issue number1-4
Publication statusPublished - 1990

ASJC Scopus subject areas

  • Medicine(all)

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    Ferrari, M., Cremonesi, L., Ruocco, L., Giunta, A., Curcio, L., Brambati, B., Cozzi, G., Russo, S., Seia, M., & Piceni Sereni, L. (1990). Prevention of cystic fibrosis in Italian families by DNA studies. Acta Universitatis Carolinae Medica, 36(1-4), 105-107.