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New multiplexing methods, especially multiplex ligation-dependent probe amplification (MLPA) [ 29], allow targeted copy number assessment of single gene or exon changes.
In PlasmoDB [ 26], the genome data base for Plasmodium falciparum, two different cpn60 genes have been annotated in the nuclear genome [ 27], one encodes a mitochondrial, and the other an apicoplast targeted copy [ 28].
We conducted targeted copy number variation (CNV) analysis and/or whole-exome sequencing on 20 families (22 patients) from a subset of 45 families (52 patients) with a clinical diagnosis of PCD who did not have a molecular genetic diagnosis after Sanger sequencing of 12 PCD-associated genes.
This could be explained by nonallelic homologous recombination among the GC42 sequences, by purifying selection acting on gene synonymous sites (Lawrie et al. 2013), and/or by targeted copy correction by gene conversion on protein coding genes (Khakhlova and Bock 2006; Christensen 2013).
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Hybridization signals should be proportional to target copy number and the relative intensities observed do not indicate the presence of multiple var2csa-type genes on chromosome 12 in HB3.
Therefore, target copy numbers obtained for the same sample using different assays should only be compared after performing appropriate tests that check for quantification bias, e.g. similar to the experiments presented in this paper.
Nine 1q21 probes were used for each MLPA assay in addition to two control synthetic probes targeting copy number neutral regions.
It has recently been suggested that CN rather than SM may be of greater importance to guiding therapeutics in certain tumour types due to the availability of drugs that target copy number aberrations [ 11].
In the last blog we saw how cells keep track of invading DNA and use that information to target copies for incorporation in silent chromatin.
Aliquots of the DNA extracts were examined by using a previously described real-time PCR assay targeting copies of the repetitive element RepMP1 (29 ).
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