... account for 90% of all CF mutations, making carrier screening on a population basis worthy of consideration. We have therefore performed a pilot screening programme for CF carriers among pregnant women. From June 1, 1990, for the following 2 years, 6,599 women were tested: 172 were heterozygous for ΔF508...

... the northern population, respectively. The solid-phase minisequencing method proved to be rapid and convenient for the detection of the AGU(Fin) mutation, and can readily be applied in large-scale carrier screening at the population level. Aspartylglucosaminuria Carrier screening Mutation detection PCR...