Prenatal diagnosis for the cystic fibrosis mutation 1717‐1, G→A using arms

Z. H. Miedzybrodzka*, K. F. Kelly, M. Davidson, S. Little, A. E. Shrimptons, J. C.S. Dean, N. E. Haites

*Corresponding author for this work

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

A family carrying two cystic fibrosis mutations, delta F508 and 1717‐1,G→A, requested prenatal diagnosis. In order to eliminate the need for labelling of allele‐specific oligonucleotides and to simplify the analysis, 1717‐1,G→A was detected using an ARMS (amplification refractory mutation system) method (Newton et al., 1989). Fetal DNA was obtained by chorionic villus sampling (CVS) and the ARMS technique was used to exclude the 1717‐1,G→A mutation. The fetus was found to be heterozygous for the delta F508 mutation. ARMS is a simple, quick, non‐radioactive method suitable for detecting DNA mutations in various clinical situations.

Original languageEnglish
Pages (from-to)845-849
Number of pages5
JournalPrenatal Diagnosis
Volume12
Issue number10
DOIs
Publication statusPublished - 1 Jan 1992

Keywords

  • 1717‐1,G→A mutation
  • ARMS
  • Cystic fibrosis
  • Polymerase chain reaction
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Prenatal diagnosis for the cystic fibrosis mutation 1717‐1, G→A using arms'. Together they form a unique fingerprint.

  • Cite this

    Miedzybrodzka, Z. H., Kelly, K. F., Davidson, M., Little, S., Shrimptons, A. E., Dean, J. C. S., & Haites, N. E. (1992). Prenatal diagnosis for the cystic fibrosis mutation 1717‐1, G→A using arms. Prenatal Diagnosis, 12(10), 845-849. https://doi.org/10.1002/pd.1970121012