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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

Fig. 4

KIAA0196 copy number screening by multiplex ligation-dependent probe amplification (MLPA). a To scale scheme of KIAA0196 gene with exons represented by vertical bars. Arrows indicate targets of MLPA probes. ex, exon. b validation of MLPA probe mix on 12 control DNAs (summarized as box plots) and on a sample known to carry a rare SNP at the ligation site for the exon 29-specific probe (circles). The 0.7 to 1.3 signal range indicative of normal copy number is marked in grey. co, control MLPA probes targeting independent chromosomal arms as indicated. c Exemplary results for ten HSP index patients

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172