The Detection of the Heterozygote and Homozygote in Cystic Fibrosis by Short Term Lymphocyte Culture Studies: A Defect in RNA Methylation

Abstract

A method is here described for the study of RNA methyla tion in short-term lymphocyte cultures. Results from CF heterozygotes and homozygotes as well as normals suggest that undermyethylation of RNA occurs in both heterozygotes and homozygotes for the cystic fibrosis gene, and that this occurrence reflects the basic defect in this disorder.