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

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dc.contributor.authorDay, Andy E.
dc.contributor.authorAndersson, Leif
dc.contributor.authorPlastow, Graham S.
dc.contributor.authorPielberg, Gerli
dc.date.accessioned2025-05-01T12:19:24Z
dc.date.available2025-05-01T12:19:24Z
dc.date.issued2003
dc.descriptionGene 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.
dc.identifier.doihttps://doi.org/10.7939/R3MC07
dc.language.isoen
dc.relationhttp://dx.doi.org/10.1101/gr.1188203
dc.relation.isversionofPielberg 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.
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.subjectCOAT COLOR
dc.subjectKIT
dc.subjectDOMINANT WHITE COLOR
dc.subjectCYP2D6 GENE
dc.subjectDNA POOLS
dc.subjectDOMESTIC PIG
dc.subjectMutations
dc.subjectSIGNAL AMPLIFICATION REACTION
dc.subjectSINGLE NUCLEOTIDE POLYMORPHISMS
dc.subjectAlleles
dc.titleA Sensitive Method for Detecting Variation in Copy Numbers of Duplicated Genes
dc.typehttp://purl.org/coar/resource_type/c_6501 http://purl.org/coar/version/c_970fb48d4fbd8a85
ual.jupiterAccesshttp://terms.library.ualberta.ca/public

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