Population allele frequencies for iMS in expanded microsatellite disease loci.

a<p>Chromosomal locations for iMS examined are as follows: AIB1: Chr. 20, 46279815-899; DRPLA: Chr. 12, 7045879-936; SCA1: Chr. 6, 16327866-954; SCA2: Chr. 12, 112036754-823; SCA17, Chr.6: 170870995-1103; HOXD13: Chr. 2, 176957786-825; FOXL2, Chr. 3, 138664861-903. The following loci were examined, but no differences from the reference genome were observed in any of the four populations: SCA3; CBFA1; ZIC2; OPMD; HOXA13; ARX; FMR1; FMR2.</p>b<p>Underline indicates the position of the interruption within the hg19 reference sequence. Bold font indicates the variant sequence (relative to the reference sequence) identified within the four populations examined.</p>c<p>This allele corresponds to the non-diseased sequence reported in reference <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004498#pgen.1004498-Goodman1" target="_blank">[60]</a>.</p>d<p>There is another microsatellite present at this locus [(CGC)(GGC)(TGC)(AGC)(CGC)(AGC)(TGC)2(AGC)(CGC)(TGC)(GGC)(TGC)(CGC)]; however it showed no differences from the reference genome in any of the four populations.