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. 2021 May 24;22(11):5538. doi: 10.3390/ijms22115538

Figure 2.

Figure 2

Co-segregation analysis performed by MLPA in GD#1 and GD#3’s family. (A,C) Normalized bar charts of GBA gene copy number patterns in the proband (orange bars), the mother (yellow bars) and the father (grey bars). Data were normalized to those of healthy controls (blue bars). (A) GD#1’s family co-segregation analysis. The black arrow indicates the absence of the peak corresponding to the GBA exon 10 probe in the proband. The father presented a half-reduced exon 10 relative peak height, while the mother displayed a half-reduced relative height of all GBA exons. (B) Family pedigree showing genotypes in GD#1. (C) GD#3’s family co-segregation analysis of the AH006907.2: g.2094con10194 recombinant allele. The black arrow indicates a half-reduced relative peak height corresponding to the GBA exon 4 probe in GD#3’s father. The mother presented a half-reduced relative height of exons 3 to 9. (D) Family pedigree showing genotypes in GD#3.