Although we sought to corroborate this by comparing the haplotype around the mutation between patients, lack of variability in markers around the mutation locus meant that we could only establish an upper size limit of 28 kb for the putative ancestral haplotype, suggesting that any such founder effect must be ancient.
To further delineate mutation favoured loci, we defined regions of high mutation density by identifying overlapping 150 base pair fragments containing higher than expected mutation loads (minimum of six mutations per fragment, originating from three independent transformants).
In order to identify disease-causing mutations in the OPTN locus, we conducted mutation screening of the coding exons of OPTN in 200 PDB patients, but results showed no mutations in the protein-coding region (data not shown).
To see if selection is observed in regions outside clonal mutation CIS loci, we extended analysis across the entire genome using both 10kb tiling and 100kb sliding windows at 10kb intervals.
In this study, we present our molecular data on the identification of the mutation locus in 6F14 and its complementation.
Detailed knowledge of mutation locus and associated gating abnormalities may help stratify the risk of adverse effects and permit the addition of an anti-epileptic drug with direct sodium channel blocking action for some patients.
If all of 10 plant individuals in T4 generation derived from a single stock of T3 seeds were resistant to Basta and contained the T-DNA insert and Bastar gene at correct sites, seeds in the stock were regarded as homozygous at the mutation locus and their progenies were used subsequently in all of the experiments.
Two individuals were expressly chosen for massively parallel resequencing of the region surrounding the Grey mutation locus.
Nevertheless, we used these strains together with strain M2 in following complementation analyses because the mutation loci in the M3 and M4 strains were within the OPRTase domain which was different from the mutation locus within the ODCase domain in strain M2.
Second, we simulated datasets from an extended pedigree with a mutation inherited from a common ancestor and a dataset for a healthy non- related population, and identified the mutation locus from the data.
