𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The detection of large deletions or duplications in genomic DNA

✍ Scribed by J.A.L. Armour; D.E. Barton; D.J. Cockburn; G.R. Taylor

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
342 KB
Volume
20
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

While methods for the detection of point mutations and small insertions or deletions in genomic DNA are well established, the detection of larger (>100 bp) genomic duplications or deletions can be more difficult. Most mutation scanning methods use PCR as a first step, but the subsequent analyses are usually qualitative rather than quantitative. Gene dosage methods based on PCR need to be quantitative (i.e., they should report molar quantities of starting material) or semi-quantitative (i.e., they should report gene dosage relative to an internal standard). Without some sort of quantitation, heterozygous deletions and duplications may be overlooked and therefore be under-ascertained. Gene dosage methods provide the additional benefit of reporting allele drop-out in the PCR. This could impact on SNP surveys, where large-scale genotyping may miss null alleles. Here we review recent developments in techniques for the detection of this type of mutation and compare their relative strengths and weaknesses. We emphasize that comprehensive mutation analysis should include scanning for large insertions and deletions and duplications.

πŸ“œ SIMILAR VOLUMES

A technique for the detection of large D
A technique for the detection of large DNA alterations in complex genomes
✍ G. Hintermann; R. Crameri; T. Kieser; R. HΓΌtter πŸ“‚ Article πŸ“… 1982 πŸ› Elsevier Science 🌐 English βš– 332 KB

As part of our effort to understand the chromosomal organization of streptomycetes, we have developed a method for detecting large alterations in the DNA, in particular to visualize insertions, transpositions, and deletions. The method involves the labeling of the DNA of two strains with ['Hlthymidi

Isolation of Caenorhabditis elegans geno
Isolation of Caenorhabditis elegans genomic DNA and detection of deletions in the unc-93 gene using PCR
✍ James L. Lissemore; Laura L. Lackner; George D. Fedoriw; Elizabeth A. De Stasio πŸ“‚ Article πŸ“… 2005 πŸ› The American Society for Biochemistry and Molecula 🌐 English βš– 147 KB πŸ‘ 2 views

## Abstract PCR, genomic DNA isolation, and agarose gel electrophoresis are common molecular biology techniques with a wide range of applications. Therefore, we have developed a series of exercises employing these techniques for an intermediate level undergraduate molecular biology laboratory cours

Detection of heterozygous deletions and
Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)
✍ Jinxiu Shi; Akane Shibayama; Qiang Liu; Vu Q. Nguyen; Jinong Feng; MΓ³nica Santos πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 272 KB πŸ‘ 1 views

Fifty to eighty percent of Rett syndrome (RTT) cases have point mutations in the gene encoding methyl-CpG-binding protein-2 (MECP2). A fraction of MECP2 negative classical RTT patients has large heterozygous deletions. Robust Dosage PCR (RD-PCR) assays were developed as a rapid, convenient and accur

Rapid detection by fluorescent multiplex
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients
✍ Christiane Duponchel; Christiana Di Rocco; Marco Cicardi; Mario Tosi πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 408 KB πŸ‘ 2 views

Hereditary angioedema (HAE) is due to a variety of defects in the C1 inhibitor gene (C1NH gene), including approximately 20% of partial deletions/duplications whose boundaries are usually within Alu repeats. To ensure complete molecular characterization of C1 inhibitor deficiencies a fluorescent mul