Chapter 2. Detection of Uniparental Disomy and Imprinting by DNA Analysis
Published Online: 19 MAR 2002
DOI: 10.1002/0471221937.ch2
Copyright © 2002 by Wiley-Liss, Inc.
Book Title
Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects
Additional Information
How to Cite
Engel, E. and Antonarakis, S. E. (2002) Detection of Uniparental Disomy and Imprinting by DNA Analysis, in Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects, John Wiley & Sons, Inc., New York, USA. doi: 10.1002/0471221937.ch2
Publication History
- Published Online: 19 MAR 2002
- Published Print: 15 OCT 2001
ISBN Information
Print ISBN: 9780471351269
Online ISBN: 9780471221937
- Summary
- Chapter
Keywords:
- DNA polymorphisms;
- SNP;
- microsatellites;
- methylation;
- restriction enzymes;
- PCR;
- FISH
Summary
In this chapter we describe the laboratory methods used to detect uniparental disomy and imprinting. These include the use of i) DNA polymorphisms to detect the parental and meiotic origins of the 2 homologous chromosomes, and their parent-of-origin allele specific expression; ii) restriction enzymes and chemical modifications of DNA to determine the methylation status of DNA fragments; iii) nucleic acid hybridization methods to detect small deletions and allele specific gene expression.