Sökning: onr:"swepub:oai:DiVA.org:uu-64807" >
A sensitive method ...
A sensitive method for detecting variation in copy numbers of duplicatedgenes
-
- Pielberg, Gerli (författare)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi
-
Day, A E (författare)
-
Plastow, G S (författare)
-
visa fler...
-
- Andersson, Leif (författare)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi
-
visa färre...
-
(creator_code:org_t)
- 2003-09-02
- 2003
- Engelska.
-
Ingår i: Genome Research. - : Cold Spring Harbor Laboratory. - 1088-9051 .- 1549-5469. ; 13:9, s. 2171-2177
- Relaterad länk:
-
http://genome.cshlp....
-
visa fler...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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.
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas