RT Journal Article
SR Electronic
T1 Testing for cystic fibrosis using allelic association.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 426
OP 430
DO 10.1136/jmg.26.7.426
VO 26
IS 7
A1 A J Ivinson
A1 A P Read
A1 R Harris
A1 M Super
A1 M Schwarz
A1 J Clayton Smith
A1 R Elles
YR 1989
UL http://jmg.bmj.com/content/26/7/426.abstract
AB 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.