title: Molecular screening of partners of cystic fibrosis heterozygotes.
abstract: 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 pregnancy and so far to two PND's. The risk of CF in the remaining 94 couples was reduced to less than one in 800. We have concentrated on the screening of partners for the commoner CF mutations rather than haplotyping them for the CF linked markers XV-2c/TaqI and KM19/PstI which are in linkage disequilibrium with CF. For individuals shown not to carry these ten mutations, a five fold difference in risk of being a CF carrier remains between those who have the XV-2c/KM19 genotypes associated with the highest risk(BB), as compared to those with the lowest risk(CC). Nevertheless we feel that effort is better expended in mutation screening rather than haplotyping.
authors.forename: A E
authors.initials: AE
authors.lastname: Shrimpton
authors.forename: D J
authors.initials: DJ
authors.lastname: Brock
mesh_terms: D015193:Chorionic Villi Sampling / Q000379:methods*; D003001:Cloning, Molecular; D003550:Cystic Fibrosis / Q000235:genetics* / Q000517:prevention & control; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods*; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D012307:Risk Factors
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator