Article
Molecular screening of partners of cystic fibrosis heterozygotes.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1992
Shrimpton A E, Brock D J
Abstract excerpt
We have screened 100 partners of known or suspected CF heterozygotes for ten CF mutations which account for 88% of the CF mutations seen by us on CF chromosomes. We have identified six CF heterozygotes amongst the 100 low-risk people screened. As two of the six people at high-risk of being CF carriers were subsequently shown not to be CF carriers this gave rise to four couples with a one in four risk of CF in a...
Topics
- Chorionic Villi Sampling
- Cloning, Molecular
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Gene Frequency
- Genetic Carrier Screening
- Genetic Testing
- Haplotypes
- Humans
- Infant, Newborn