Clinical applications of restriction endonuclease analysis
Phillips, J.A.
Birth Defects Original Article Series 19(5): 73-86
1983
ISSN/ISBN: 0547-6844 PMID: 6309271 Document Number: 205212
These are exciting times in human genetics. Recombinant DNA technology has enabled investigators to sequence human genes so that the structure and organization of some genes is now known. These observations led to studies of "natural mutations," such as the hemoglobinopathies and thalassemias. This information in turn provided insight so that many mutations affecting the alpha- or beta-globin genes can now be detected prenatally. It seems probable that these techniques will be applicable to many other human genetic diseases. In the future, however, the greatest impact of these advances may be through their applications to produce proteins, such as hormones and vaccines, which can be used to treat deficient patients.