Advances in molecular diagnosis.
Approaches to the diagnosis of genetic disease using the tools of molecular genetics are being developed at a rapid pace as efforts to map the human genome progress. Technical challenges remain, however, in devising approaches to permit the wide diversity of pathogenic mutations to be identified in an efficient manner. Moreover, the possibility of population screening for carrier status for gene mutations raises important ethical and social questions. Major progress has been made in both areas and the list of disorders amenable to molecular diagnosis is expanding rapidly.
Korf
B R
BR
Department of Neurology, Children's Hospital, Boston, MA, USA.
D004992:Ethics, Medical; D017353:Gene Deletion; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D005821:Genetic Techniques; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction