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Testing for cystic fibrosis using allelic association.
A J Ivinson1, A P Read, R Harris
1Department of Medical Genetics, St Mary's Hospital, Manchester.
Journal of Medical Genetics
|July 1, 1989
Summary
A specific genetic marker is highly associated with cystic fibrosis (CF) chromosomes. This finding aids in calculating CF carrier risks, especially for individuals with a family history of the disease.
Area of Science:
- Medical Genetics
- Genetic Epidemiology
Background:
- Cystic Fibrosis (CF) is a genetic disorder.
- Accurate carrier risk assessment is crucial for genetic counseling and reproductive planning.
Observation:
- A specific haplotype (XV2c, KM19, CS.7 at D7S23 locus) is present on 90% of CF-carrying chromosomes versus 11% of normal chromosomes in a UK population.
- This genetic marker shows a strong linkage disequilibrium with the CF gene.
Findings:
- The identified haplotype can be used to estimate cystic fibrosis carrier probabilities.
- Carrier risk calculations are more precise for individuals with a known family history of CF.
Implications:
- This genetic marker facilitates improved carrier risk assessment for cystic fibrosis.
- While useful for families with a CF history, the method has limitations for prenatal diagnosis in the absence of family history, with estimated fetal risk below 2%.