Table 2 of Li, Mol Vis 2011; 17:461-468.

Table 2. FRMD7 gene dosage analysis by MLPA in the NYS003 family.

Probe Average DQ SD dosage
PDCD8 0.9 0.09 Normal
FRMD7 exon1 1.07 0.07 Normal
FRMD7 exon1 0.93 0.08 Normal
FRMD7 exon2 0.81 0.15 Normal
FRMD7 exon2 0.88 0.09 Normal
FRMD7 exon4 0.97 0.07 Normal
FRMD7 exon4 0.83 0.04 Normal
FRMD7 exon5 0.86 0.07 Normal
FRMD7 exon6 0.98 0.08 Normal
FRMD7 exon7 0.98 0.07 Normal
FRMD7 exon8 0.94 0.07 Normal
FRMD7 exon9 0.91 0.08 Normal
FRMD7 exon9 0.98 0.05 Normal
FRMD7 exon11 1.02 0.03 Normal
FRMD7 exon12 1.01 0.05 Normal
FRMD7 exon12 1.03 0.06 Normal
GPC4 0.99 0.08 Normal
GPC3 1.01 0.08 Normal
Control 0.96 0.11 Normal
Control 1.03 0.08 Normal
Control 1.02 0.04 Normal
Control 1.03 0.07 Normal
Control 0.94 0.08 Normal
Control 0.93 0.06 Normal
Control 1.04 0.08 Normal
Control 1.02 0.07 Normal
Control 0.95 0.07 Normal
Control 1.09 0.06 Normal

For normal sequences, a dosage quotient (DQ) of 1.0 is expected; if a deletion or duplication is present, the dosage quotient should be 0.7 and 1.3, respectively.

Li, Mol Vis 2011; 17:461-468. http://www.molvis.org/molvis/v17/a53

©2011 Molecular Vision http://www.molvis.org/molvis/

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