Mutation Analysis in Cystic Fibrosis
Open Access
- 5 July 1990
- journal article
- letter
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 323 (1) , 62-63
- https://doi.org/10.1056/nejm199007053230114
Abstract
The article by Lemna et al. (Feb. 1 issue)1 furthers the evaluation of the ΔF508 mutation, which is associated with some cases of cystic fibrosis. Although its real effect may be to help in documenting the substantial clinical variation that can occur among persons who possess the same small genetic deletion, the finding has encouraged calls for general screening for cystic fibrosis. This is already offered to the public by unregulated for-profit laboratories supported by biotechnology companies, generally without professional genetic counseling. Their services have become available despite the cautions expressed by the American Society of Human Genetics.2 Dr. Colten's cogent accompanying editorial3 voices several concerns that should temper the rush to universal screening for the identification of cystic fibrosis heterozygotes. I should like to comment on two points.Keywords
This publication has 3 references indexed in Scilit:
- Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic FibrosisNew England Journal of Medicine, 1990
- Screening for Cystic FibrosisNew England Journal of Medicine, 1990
- ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPEThe Lancet, 1989