Fig. 2: A DM1 family with expanded (pathogenic) and intermediate alleles.
From: Interrupted CTG repeats in the 37–43 units size range in the 3ʹUTR of DMPK are common alleles
A Pedigree of DMPK family A with three generations (I-III), showing unaffected (open symbols) and affected individuals (solid symbols). Males and females are both indicated by diamonds and their position (left and right) within couples is random. The DMPK repeat length (DMPK) of each individual tested is shown in bold below the symbols, aligned with the sizes of genetic markers surrounding the DMPK locus (marker names shown at individual I-1). Different haplotypes are marked with unique background colors. Interrupted DMPK alleles are indicated by an asterisk. (B) Partial BAM file of PacBio sequencing data of the 45 repeat allele of individual II-5 and the 37 repeat allele of individual III-5 (both indicated). The sequence data was aligned to the DMPK gene (note the orientation of the gene on the minus strand) and bases are only shown when mismatching the reference sequence. The partial BAM file of the 37 repeat allele of individual III-5 is divided into three parts, where the CAG repeat units are surrounded by a blue frame and the CAGCCG repeat units by a red frame. On top of each BAM file alignment a schematic representation shows the repeat structure of both complementary strands with the sequence in blue and the number of triplets in red.
