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DNA Diagnosis in Monogenic Diseases

Published online by Cambridge University Press:  10 March 2009

Raye Lynn Alford ,
Belinda J. F. Rossiter  and
C. Thomas Caskey
Raye Lynn Alford
Affiliation:
Baylor College of Medicine
Belinda J. F. Rossiter
Affiliation:
Baylor College of Medicine
C. Thomas Caskey
Affiliation:
Baylor College of Medicine
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Abstract

Several routine procedures are available for diagnosis of diseases caused by an alteration in a single gene. These techniques include Southern analysis, the polymerase chain reaction, allele-specific oligonucleotide screening, automated DNA nucleotide sequencing, and linkage analysis. DNA testing procedures can be used for diagnosis of disease, determination of carrier status in affected families, or general screening of the population. Some of the more commonly used techniques and their applications are described in this article.

Type
Special Section: Genetic Technology
Information
International Journal of Technology Assessment in Health Care , Volume 10 , Issue 4 , Fall 1994 , pp. 628 - 643
Copyright
Copyright © Cambridge University Press 1994

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