Basic concepts of molecular biology as applied to pediatric and adolescent gynecology

Recombinant DNA techniques have increased our understanding of genetic disorders and facilitated their diagnosis and may eventually lead to therapy. Expression may be assessed and quantified by Northern blot analysis, whereas in situ hybridization may localize the transcript. Southern blotting has been the standard method to identify gene mutations and RFLPs, which are useful in the diagnosis of many different disorder. Special multiallelic RFLPs produce a DNA fingerprint particularly useful in paternity testing and forensic medicine. PCR has greatly reduced the time and expense to diagnose genetic disorders, and has an enormous number of applications both clinically and at the research level. These techniques along with DNA sequencing are currently being used in the human genome project, which may some day allow 'DNA typing' of individuals for any gene of interest. There is no doubt that new techniques in molecular biology will continue to evolve so that the goal of gene therapy for many disorders may be possible in the future.