Fig. 2
From: A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family
a RT-PCR analysis of the splice site mutation in the NHS gene. Samples were from a normal female, a carrier female and an affected male. The RT-PCR product separated by 1.2% agarose gel electrophoresis is a band of the expected size (421 bp) in the normal female and an aberrant band of 837 bp in the affected male (II: 5); bands of both sizes (421 bp and 837 bp) are observed in the carrier female (II: 2); “M” denotes the 100 bp ladder, and “–” represents the negative control. b Chromatogram of RT-PCR product sequencing. The upper panel represents the sequence for normal splicing in the control subject, the middle panel represents the sequence for normal and aberrant splicing in a carrier female (II: 2), the lower panel represents the sequence for aberrant splicing with insertion of 416 nucleotides in exon 4 in an affected male (II: 5). c Sequence of nucleotides and corresponding amino acids in the mutated NHS protein aligned with reference sequence; the premature stop codon is indicated