Article Figures & Data
Figures
- Figure 1 RFC1 expansion analysis
Representative RP-PCR results from a patient with disease due to (A) biallelic expanded (AAGGG) pathogenic alleles or a control individual (B) with wild-type alleles. Samples with RP-PCR evidence of an expanded RFC1 allele were genotyped by standard PCR for biallelic expansion (C). Standard PCR allows categorization of individuals as biallelic with pathogenic expansions (no band, lanes 1-4), heterozygous wild-type (348 bp band, arrow, lanes 5-8), heterozygous with a non-pathogenic polymorphic expansion (variable sized bands, lanes 9-11), or wild-type with one or more non-pathogenic polymorphic expansion(s) (variable sized band(s), lanes 12-14). + = biallelic control; − = wild-type control; M = marker; RFC1 = replication factor C subunit 1.
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