Diagnosis of human heritable defects by recombinant DNA methods.

TitleDiagnosis of human heritable defects by recombinant DNA methods.
Publication TypeJournal Article
Year of Publication1988
AuthorsCaskey, CT, Gibbs, RA, Witkowski, JA, Hejtmancik, JF
JournalPhilos Trans R Soc Lond B Biol Sci
Volume319
Issue1194
Pagination353-60
Date Published1988 Jun 15
ISSN0962-8436
KeywordsDNA, Recombinant, Female, Genetic Diseases, Inborn, Genetic Engineering, Genetic Techniques, Humans, Mutation, Pregnancy, Prenatal Diagnosis
Abstract

Recombinant DNA methods provide highly sensitive means for the detection of DNA alterations that lead to human disease mutations. In this paper I shall illustrate the approaches currently available and discuss new technologies that show promise of replacing the present methods. Medical diagnosis by means of recombinant DNA methods has an expanding role in clinical medicine.

DOI10.1098/rstb.1988.0056
Alternate JournalPhilos. Trans. R. Soc. Lond., B, Biol. Sci.
PubMed ID2900528