ACOG technical bulletin. Genetic technologies. Number 208--July 1995

Abstract

Molecular techniques are now clinically useful for genetic diagnosis, and obstetrician-gynecologists should become familiar with their basic principles. Southern blot analysis and PCR are two of the most commonly used techniques to detect gene deletions and RFLPs. Analysis of RFLPs is perhaps the most widely applicable technique, but detailed family studies are required to determine whether an RFLP is informative.