ERA

Download the full-sized PDF of A Sensitive Method for Detecting Variation in Copy Numbers of Duplicated GenesDownload the full-sized PDF

Analytics

Share

Permanent link (DOI): https://doi.org/10.7939/R3MC07

Download

Export to: EndNote  |  Zotero  |  Mendeley

Communities

This file is in the following communities:

Roy Berg Kinsella Research Ranch

Collections

This file is in the following collections:

Journal Articles (Kinsella Ranch)

A Sensitive Method for Detecting Variation in Copy Numbers of Duplicated Genes Open Access

Descriptions

Author or creator
Pielberg, Gerli
Day, Andy E.
Plastow, Graham S.
Andersson, Leif
Additional contributors
Subject/Keyword
SINGLE NUCLEOTIDE POLYMORPHISMS
SIGNAL AMPLIFICATION REACTION
DOMINANT WHITE COLOR
COAT COLOR
DOMESTIC PIG
CYP2D6 GENE
DNA POOLS
MUTATION
ALLELE
KIT
Type of item
Journal Article (Published)
Language
English
Place
Time
Description
Gene duplications are common in the vertebrate genome, and duplicated loci often show a variation in copy number that may have important phenotypic effects. Here we describe a powerful method for quantification of duplicated copies based on pyrosequencing. A reliable quantification was obtained by amplification of the duplication break-point and a corresponding nonduplicated sequence in a competitive PCR assay. A comparison with an independent method for quantification based on the Invader technology revealed an excellent correlation between the two methods. The pyrosequencing-based method was evaluated by analyzing variation in copy number at the duplicated KIT/Dominant white locus in pigs. We were able to distinguish haplotypes at this locus by combining the duplication breakpoint test with a diagnostic test for a functionally important splice mutation in the duplicated gene. An extensive allelic variation, including the presence of a new allele carrying a single KIT copy expected to encode a truncated KIT receptor, was revealed when analyzing white pigs from commercial lines.
Date created
2003
DOI
doi:10.7939/R3MC07
License information
Attribution-NonCommercial 4.0 International
Rights

Citation for previous publication
Pielberg G., Day A.E., Plastow G.S., and Andersson L. 2003. A sensitive method for detecting variation in copy numbers of duplicated genes. Genome Res. 13, 2171-2177.
Source

Link to related item

File Details

Date Uploaded
Date Modified
2016-04-24T02:43:18.104+00:00
Audit Status
Audits have not yet been run on this file.
Characterization
File format: pdf (Portable Document Format)
Mime type: application/pdf
File size: 313407
Last modified: 2016:04:23 20:43:26-06:00
Filename: Genome Res.-2003-Pielberg-2171-7.pdf
Original checksum: 888d2fbd493366a03110397139c21e82
Well formed: true
Valid: true
Page count: 8
Activity of users you follow
User Activity Date