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. 1993 Jul;30(7):538–542. doi: 10.1136/jmg.30.7.538

What young people think and do when the option for cystic fibrosis carrier testing is available.

J Mitchell 1, C R Scriver 1, C L Clow 1, F Kaplan 1
PMCID: PMC1016451  PMID: 8411024

Abstract

We report findings in phase II of a pilot study of cystic fibrosis (CF) carrier screening/testing by mutation analysis. Phase I has been reported elsewhere. Eligible participants in phase II (n = 815) were students (15 to 17 years of age) in public high schools. An educational component (exchange of information and discussion about common genetic disorders including CF) preceded, by one week or more, voluntary participation in the screening component which required a blood sample. The uptake rate for screening was 42%. Nine carriers (2pq = 0.0260) were identified, all with the delta F508 mutation; students were also tested for G551D, G542X, W1282X, and -549-mutations, but no carriers of these alleles were found. Carriers had positive views of the education and testing experiences. Persons identified as 'non-carriers' were also surveyed (n = 135, response rate 41%). As in phase I, the majority (83%) again understood that a negative DNA test had not excluded them from possible carrier status. Students who participated in the informational component but were not screened served here as controls in the follow up survey (n = 208, response rate 53%). Their views were similar to those of the screened non-carriers, and similar also to those held by students, adults, pregnant women, couples, and CF relatives in other communities.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. GOODMAN G., RIPPS H., SIEGEL I. M. CONE DYSFUNCTION SYNDROMES. Arch Ophthalmol. 1963 Aug;70:214–231. doi: 10.1001/archopht.1963.00960050216013. [DOI] [PubMed] [Google Scholar]
  2. Gouras P., Eggers H. M., MacKay C. J. Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration. Arch Ophthalmol. 1983 May;101(5):718–724. doi: 10.1001/archopht.1983.01040010718003. [DOI] [PubMed] [Google Scholar]
  3. Heckenlively J. R., Weleber R. G. X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon. Arch Ophthalmol. 1986 Sep;104(9):1322–1328. doi: 10.1001/archopht.1986.01050210076029. [DOI] [PubMed] [Google Scholar]
  4. Jacobson D. M., Thompson H. S., Bartley J. A. X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers. Ophthalmology. 1989 Jun;96(6):885–895. doi: 10.1016/s0161-6420(89)32808-9. [DOI] [PubMed] [Google Scholar]
  5. Keunen J. E., van Everdingen J. A., Went L. N., Oosterhuis J. A., van Norren D. Color matching and foveal densitometry in patients and carriers of an X-linked progressive cone dystrophy. Arch Ophthalmol. 1990 Dec;108(12):1713–1719. doi: 10.1001/archopht.1990.01070140067031. [DOI] [PubMed] [Google Scholar]
  6. Krill A. E., Deutman A. F. Dominant macular degenerations. The cone dystrophies. Am J Ophthalmol. 1972 Mar;73(3):352–369. doi: 10.1016/0002-9394(72)90064-5. [DOI] [PubMed] [Google Scholar]
  7. Reichel E., Bruce A. M., Sandberg M. A., Berson E. L. An electroretinographic and molecular genetic study of X-linked cone degeneration. Am J Ophthalmol. 1989 Nov 15;108(5):540–547. doi: 10.1016/0002-9394(89)90431-5. [DOI] [PubMed] [Google Scholar]
  8. Ripps H., Noble K. G., Greenstein V. C., Siegel I. M., Carr R. E. Progressive cone dystrophy. Ophthalmology. 1987 Nov;94(11):1401–1409. doi: 10.1016/s0161-6420(87)33272-5. [DOI] [PubMed] [Google Scholar]
  9. Smith V. C., Pokorny J., van Norren D. Densitometric measurement of human cone photopigment kinetics. Vision Res. 1983;23(5):517–524. doi: 10.1016/0042-6989(83)90126-8. [DOI] [PubMed] [Google Scholar]
  10. Verdoorn C., Pinckers A. X-linked cone dystrophy. Doc Ophthalmol. 1988 Oct-Nov;70(2-3):195–198. doi: 10.1007/BF00154453. [DOI] [PubMed] [Google Scholar]
  11. van Norren D., van der Kraats J. A continuously recording retinal densitometer. Vision Res. 1981;21(6):897–905. doi: 10.1016/0042-6989(81)90191-7. [DOI] [PubMed] [Google Scholar]
  12. van Schooneveld M. J., Went L. N., Oosterhuis J. A. Dominant cone dystrophy starting with blue cone involvement. Br J Ophthalmol. 1991 Jun;75(6):332–336. doi: 10.1136/bjo.75.6.332. [DOI] [PMC free article] [PubMed] [Google Scholar]

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