Figure 4.

(a) A simple and rapid PCR‐RFLP assay for detecting c.1170G>A variant in the TSEN54 gene. This schematic figure showing the generated fragments after digestion with RsaI. The variant makes a new site for this enzyme. Agarose gel (2.0%) electrophoresis with ethidium bromide staining following the RsaI digestion of the PCR products is shown. PCR‐RFLP results in normal control showing 486, 217, and 113 bp (A1) and after RsaI digestion (A2), a proband who was homozygously showing three distinct bands including 486, 217, and 85 bp. The 28 bp band is not seen in this figure; Normal is wild‐type allele (GG); W/V is heterozygote; and V/V is homozygous for c.1170G>A. (b) Chromatograms showing nucleotide sequences of TSEN54 in the regions of c.1170G>A which was detected in the family. The affected region is highlighted