Fig. 3: Long-read sequencing at the RFC1 locus. | npj Parkinson's Disease

Fig. 3: Long-read sequencing at the RFC1 locus.

From: Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson’s disease

Fig. 3: Long-read sequencing at the RFC1 locus.

The left panel displays the genotype pattern and long-read sequencing results of Patient 1. Patient 1 harbors an allele with a (AGGGG)exp(AAGGG)14 repeat and another allele with an (AAGGG)exp repeat. Long-read sequencing analysis of Patient 1 identified 21 subreads spanning the entire RFC1 locus, encompassing expansions of AAGGG, AGGGG, and AATGG. Two subreads containing (AATGG)exp insertions within the (AAGGG)exp are detected. The right panel displays the genotype pattern and long-read sequencing results of Patient 2. Patient 2 harbors two alleles with (AAGGG)exp. Long-read sequencing analysis of Patient 2 identified 16 subreads spanning the entire RFC1 locus, encompassing expansions of AAGGG and AATGG. Six subreads containing (AATGG)exp insertions within the (AAGGG)exp from both alleles are detected. AAGGG, AGGGG, and AATGG are shown as blue, purple, and red rectangles, respectively.

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