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Prenatal diagnosis for the cystic fibrosis mutation 1717‐1, G→A using arms
Author(s) -
Miedzybrodzka Z. H.,
Kelly K. F.,
Davidson M.,
Little S.,
Shrimptons A. E.,
Dean J. C. S.,
Haites N. E.
Publication year - 1992
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970121012
Subject(s) - prenatal diagnosis , chorionic villus sampling , cystic fibrosis , mutation , fetus , medicine , biology , genetics , pregnancy , gene
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.