Molecular genetic technology in cystic fibrosis: implications for nursing practice.

Cystic fibrosis (CF) is an inherited disorder occurring in 1 in 2,500 Caucasians of Northern European descent (which will be referred to as "white Americans" hereafter). One in 25 white Americans carries a single mutation of the CF gene. Recent molecular genetic breakthroughs have led to the localization of the gene on chromosome 7. Specific gene mutations have been identified in approximately 80% of individuals with this disorder. These new breakthroughs allow for the accurate identification of individuals affected with this disorder and of approximately 90% of individuals who carry the gene that causes this disorder. Nurses must become familiar with these molecular genetic technologies and their implications for nursing practice. They must be able to identify individuals who can benefit from genetic testing, communicate effectively regarding the risks and benefits of this testing, and support them once results become available. Genetic testing for CF is the first of many such tests that will become available in the future. How nurses deal with CF testing will serve as the model for future, similar testing programs.

[1]  C. Strom,et al.  Preconception genetic diagnosis of cystic fibrosis , 1990, The Lancet.

[2]  L. Tsui,et al.  A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein , 1990, Nature.

[3]  M. Hodson,et al.  Identification of the cystic fibrosis gene. , 1990, BMJ.

[4]  A. Beaudet,et al.  The American Society of Human Genetics statement on cystic fibrosis screening. , 1990, American journal of human genetics.

[5]  F. Gilbert Is population screening for cystic fibrosis appropriate now? , 1990, American journal of human genetics.

[6]  L. Tsui,et al.  Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. , 1990, The New England journal of medicine.

[7]  L. Tsui,et al.  Erratum: Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA , 1989, Science.

[8]  L. Tsui,et al.  Erratum: Identification of the Cystic Fibrosis Gene: Genetic Analysis , 1989, Science.

[9]  J. Riordan,et al.  Identification of the Cystic Fibrosis Gene : Chromosome Walking and Jumping Author ( s ) : , 2008 .

[10]  A. Beaudet,et al.  Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared. , 1988, Clinical chemistry.

[11]  M. Farrall,et al.  FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WITH LINKED DNA PROBES , 1986, The Lancet.

[12]  L. Tsui,et al.  Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic Dna Marker Author(s): Lap , 2022 .

[13]  G. Forstner Cystic Fibrosis: Horizons , 1985 .

[14]  D. Brock AMNIOTIC FLUID ALKALINE PHOSPHATASE ISOENZYMES IN EARLY PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS , 1983, The Lancet.

[15]  D. Brock,et al.  POPULATION SCREENING FOR CYSTIC FIBROSIS , 1980, The Lancet.

[16]  L. Cohen,et al.  CYSTIC FIBROSIS AND PREGNANCY A National Survey , 1980, The Lancet.

[17]  J. Kattwinkel,et al.  Fertility in males with cystic fibrosis. , 1972, Lancet.

[18]  Charles R.scriver The Metabolic basis of inherited disease , 1989 .

[19]  Peter J. Scambler,et al.  Localization of cystic fibrosis locus to human chromosome 7cen–q22 , 1985, Nature.

[20]  Michael Dean,et al.  A closely linked genetic marker for cystic fibrosis , 1985, Nature.