Research Article
A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism
Figure 2
Chromosomal microarray analysis, Sanger sequencing, and sequence alignment for PINK1 gene. (a) Allele difference plot of patient III.1 showing a ROH of 11.68 Mb at PINK1 gene locus. (b) Sanger sequencing of PINK1 exon 8 showing the p.L539F mutation at homozygous state and the wild type sequence in a normal individual. (c) Multiple sequences alignment for human PINK1 gene. Conservation of amino acid L at position 539 among various species is indicated by arrow.
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