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Research Article
Testing for cystic fibrosis using allelic association.
  1. A J Ivinson,
  2. A P Read,
  3. R Harris,
  4. M Super,
  5. M Schwarz,
  6. J Clayton Smith,
  7. R Elles
  1. Department of Medical Genetics, St Mary's Hospital, Manchester.

    Abstract

    A particular haplotype defined by probes XV2c, KM19, and CS.7 at the D7S23 locus was found on 90% of chromosomes which carry cystic fibrosis (CF), but on only 11% of normal chromosomes in a UK sample of CF carriers. We show how such data can be used to calculate carrier risks for people with and without a family history of CF, and give examples of clinical applications. For parents or sibs of dead CF patients, phase and genotypes can often be assigned with only 1 to 2% error. However, this method is not suitable for prenatal testing where there is no history of CF; for couples with no family history, no fetus can be shown to be at more than 2% risk of being affected.

    https://doi.org/10.1136/jmg.26.7.426

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