Diagnosis of genetic disease using recombinant DNA

Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484 and Schmidtke, J. 1986. Diagnosis of genetic disease using recombinant DNA. Human Genetics 73 (1) , pp. 1-11. 10.1007/BF00292654

Full text not available from this repository.

Abstract

Recombinant DNA technology promises to make an important contribution to the analysis and diagnosis of inherited human disease. Direct detection and analysis of various genetic defects at the DNA level are now possible using cloned gene or oligonucleotide probes. In addition, the use of restriction fragment length polymorphisms associated with linked DNA segments should permit not only the diagnosis of hitherto undetectable disease states but also the chromosomal localization of the loci responsible. The eventual isolation of disease loci should lead to a better understanding of the molecular basis of inherited disease.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics
Publisher:	Springer
ISSN:	0340-6717
Last Modified:	27 Oct 2022 08:21
URI:	https://orca.cardiff.ac.uk/id/eprint/62075

Citation Data

Cited 41 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item