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DNA Analysis in Genetic Disorders

DNA Analysis in Genetic Disorders Recombinant DNA technology has applications in the analysis of an ever­ increasing number of genetic disorders. This review discusses (a) the basic genetic principles underlying recombinant DNA techniques, (b) the general approach to analyzing genetic disorders using these methods, and finally (c) the practical applications of DNA analysis in genetic disease. INTRODUCTION The last 30 years have witnessed a revolution in our understanding of the hereditary material and mutations causing genetic diseases. Recombinant DNA technology has come into its own, with applications in virtually every subspecialty of medicine. Elucidation of single-gene disorders is proceeding at an exponential pace; over 200 human genes have been cloned (5), the chromosomal map location is known for more than 140 of them (33a). Over 100 are known to be associated with one or more disease states (42). As our knowledge of the human gene map grows, an increasing number of disease loci are being pinpointed in the absence of knowledge of the underlying genetic defect. It is hoped that by dissecting these genetic loci we will learn more about the underlying biochemical bases of the mutations. The goals of this review are three: (a) to provide an overview of genetic principles necessary http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annual Review of Medicine Annual Reviews

DNA Analysis in Genetic Disorders

Annual Review of Medicine , Volume 37 (1) – Feb 1, 1986

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References (52)

Publisher
Annual Reviews
Copyright
Copyright 1986 Annual Reviews. All rights reserved
Subject
Review Articles
ISSN
0066-4219
eISSN
1545-326X
DOI
10.1146/annurev.me.37.020186.002113
pmid
3010808
Publisher site
See Article on Publisher Site

Abstract

Recombinant DNA technology has applications in the analysis of an ever­ increasing number of genetic disorders. This review discusses (a) the basic genetic principles underlying recombinant DNA techniques, (b) the general approach to analyzing genetic disorders using these methods, and finally (c) the practical applications of DNA analysis in genetic disease. INTRODUCTION The last 30 years have witnessed a revolution in our understanding of the hereditary material and mutations causing genetic diseases. Recombinant DNA technology has come into its own, with applications in virtually every subspecialty of medicine. Elucidation of single-gene disorders is proceeding at an exponential pace; over 200 human genes have been cloned (5), the chromosomal map location is known for more than 140 of them (33a). Over 100 are known to be associated with one or more disease states (42). As our knowledge of the human gene map grows, an increasing number of disease loci are being pinpointed in the absence of knowledge of the underlying genetic defect. It is hoped that by dissecting these genetic loci we will learn more about the underlying biochemical bases of the mutations. The goals of this review are three: (a) to provide an overview of genetic principles necessary

Journal

Annual Review of MedicineAnnual Reviews

Published: Feb 1, 1986

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