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DNA techniques in prenatal diagnosis and in genetic pathology

DNA techniques in prenatal diagnosis and in genetic pathology New molecular techniques concerned with the isolation and identification of DNA fragments can be used for carrier detection and early prenatal diagnosis either by direct detection of the mutant DNA sequence or by indirect linkage studies employing RFLPs as DNA markers. Gene specific DNA probes are available already for a number of genetic disorders, such as the hemoglobinopathies, hemophilia A and B, α1‐antitrypsin deficiency, phenylketonuria, and chronic granulomatous disease. Coinheritance of DNA‐polymorphisms can be traced, eg, for Norrie disease, myotonic dystrophy, Duchenne and Becker muscular dystrophies, and Huntington chorea. Several genes have been localized successfully to specific chromosome regions. By “walking” or “jumping” along the chromosome, it is hoped finally to reach further gene loci of interest, to analyze the molecular pathology of single gene disorders, and to find new ways for their prevention. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

DNA techniques in prenatal diagnosis and in genetic pathology

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References (47)

Publisher
Wiley
Copyright
Copyright © 1987 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320280504
Publisher site
See Article on Publisher Site

Abstract

New molecular techniques concerned with the isolation and identification of DNA fragments can be used for carrier detection and early prenatal diagnosis either by direct detection of the mutant DNA sequence or by indirect linkage studies employing RFLPs as DNA markers. Gene specific DNA probes are available already for a number of genetic disorders, such as the hemoglobinopathies, hemophilia A and B, α1‐antitrypsin deficiency, phenylketonuria, and chronic granulomatous disease. Coinheritance of DNA‐polymorphisms can be traced, eg, for Norrie disease, myotonic dystrophy, Duchenne and Becker muscular dystrophies, and Huntington chorea. Several genes have been localized successfully to specific chromosome regions. By “walking” or “jumping” along the chromosome, it is hoped finally to reach further gene loci of interest, to analyze the molecular pathology of single gene disorders, and to find new ways for their prevention.

Journal

American Journal of Medical Genetics Part AWiley

Published: Jan 1, 1987

Keywords: ; ;

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