TY  - JOUR
A1  - Pielberg, Gerli
A1  - Day, Andy E.
A1  - Plastow, Graham S.
A1  - Andersson, Leif
T1  - A Sensitive Method for Detecting Variation in Copy Numbers of Duplicated Genes
Y1  - 2003/09/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 2171 
EP  - 2177 
DO  - 10.1101/gr.1188203 
VL  - 13 
IS  - 9 
UR  - http://genome.cshlp.org/content/13/9/2171.abstract 
N2  - 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. 
ER  -