Weatherall D J, Old J M, Thein S L, Wainscoat J S
Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, U.K.
Philos Trans R Soc Lond B Biol Sci. 1988 Jun 15;319(1194):249-61. doi: 10.1098/rstb.1988.0047.
The application of recombinant DNA technology to the study of human genetic disease promises to increase the scope for carrier detection and prenatal diagnosis. Here we summarize current experience with prenatal diagnosis of single-gene disorders by DNA analysis and highlight some of the technical and organizational problems that remain to be solved.