Figure 2
From: Allele-specific expression of Parkinson’s disease susceptibility genes in human brain
Sensitivity assessment of genotyping assays measuring allelic expression with known ratios of the alleles. Homozygous samples of genomic DNA mixtures at known ratios were tested for (a) rs749670 in ZNF646, (b) rs749671 in ZNF646, (c) rs14235 in BCKDK, (d) rs199355 in GPNMB, (e) rs708723 in RAB7L1, (f) rs951366 in NUCKS1, (g) rs58241213 in LZTS3, (h) rs4649383 in SIPA1L2, (i) rs28481699 in WDHD1, (j) rs2270968 in MCCC1, and (k) rs34311866 in TMEM175 using real-time qPCR. A heterozygous (Het.) sample was included as a 1:1 ratio control as well as allele ratios 4:1, 2:1, 1.5:1, 1.25:1, 1:1, 1:1.25, 1:1.5, 1:2, and 1:4. Three assays (for SNPs rs34884217 in TMEM175, rs2230288 in GBA, and rs76179989 in STK39) could not be tested due to a lack of homozygous samples for one of the alleles. Data are presented as mean change in Ct between the two alleles (ΔCt). Samples were run in triplicates and error bars show the standard error of the mean. qPCR quantitative PCR, Ct cycle threshold.
