Skip to main content
Fig. 1 | BMC Medical Genomics

Fig. 1

From: Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Fig. 1

Pedigree and genetic analysis of the FXN polymorphic region performed on the proband and his family. The results of PCR fragment analysis show an allele of 7 GAA repeats in the father’s sample (II-3) and an allele of 9 GAA repeats in the mother’s sample (II-4). The sibling (III-1) presents two normal alleles of 7 and 9 GAA repeats, respectively. No peaks were observed in the proband’s sample (III-2). To detect expanded alleles, TP-PCR was performed and, as a result, the father (II-3) and the proband’s (III-2) samples showed an expansion while non-expanded alleles were observed in the mother’s sample (II-4). The affected individuals are marked in black

Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us