Diagnosis of genetic disease using recombinant DNA. third edition

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Schmidtke, J. 1991. Diagnosis of genetic disease using recombinant DNA. third edition. Human Genetics -Berlin- 87 (5) , pp. 519-560. 10.1007/BF00209011

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Abstract

Recombinant DNA methodology has greatly increased our knowledge of the molecular pathology of the human genome at the same time as providing the means to diagnose inherited disease at the DNA level. Direct detection and analysis of a range of genetic defects are now possible using cloned gene or oligonucleotide probes or by direct sequencing of the disease gene(s). In addition, the use of restriction fragment length polymorphisms (RFLPs) within and around these genes as indirect genetic markers has now potentiated the tracking of disease alleles in affected pedigrees in cases where direct analysis was not feasible. RFLPs associated with linked anonymous segments may also be used not only to diagnose hitherto undetectable disease states, but also for chromosomal localization of the loci responsible. We present here an updated list of reports describing both the direct and the indirect analysis/diagnosis of human inherited disease; it is intended to serve as a guide to current molecular genetic approaches in diagnostic medicine.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Springer Verlag
ISSN:	0340-6717
Last Modified:	27 Oct 2022 08:20
URI:	https://orca.cardiff.ac.uk/id/eprint/62035

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