Fig. 1: Reverse transcription polymerase chain reaction (RT-PCR) analysis in patient 059. | Genetics in Medicine

Fig. 1: Reverse transcription polymerase chain reaction (RT-PCR) analysis in patient 059.

From: Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Fig. 1

RT-PCR analysis across exons 11–16 of the SPG7 gene demonstrated the presence of a single allele containing c.1529T in exon 11 in patient 059. The two siblings who are heterozygous for c.1529C>T (p.Ala510Val) and do not carry the c.2181+5G>A intron 16 variant demonstrated the presence of two alleles at position c.1529 (c.1529C and c.1529T). The normal control demonstrated c.1529C at this position. This result is indicative of the c.1529C>T and c.2181+5G>A variants being in trans in patient 059 with the c.2181+5G>A allele not being amplified

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