Skip to main content
. Author manuscript; available in PMC: 2014 Aug 18.
Published in final edited form as: Mol Genet Metab. 2007 Jun 18;92(0):71–77. doi: 10.1016/j.ymgme.2007.05.003

Fig. 2.

Fig. 2

RT-PCR analysis for aberrant splicing. (a) RT-PCR with primers encompassing the 5′ untranslated region through exon 4 shows a normal 388 bp product in all patients and two controls. A faint band (767 bp, arrow) is observed only from mRNA from patient PHI with the c.144+1G>T mutation. It is of note that the band densities in patients PHI, OMK, BHJ, and YJH with one or two splicing mutations are weaker than those in patients with only missense mutations or in controls. (b) A 390-bp band is expected with primers encompassing exon 2–6. In patients OMK and BHJ homozygous for the c.457-3_2CA>GG mutation, only 296-bp band is observed. In patient YJH with Arg21Leu and c.457-3_2CA>GG mutations, a 296 bp and 390-bp bands are amplified but the 296-bp band is fainter than the 390 bp band. (c) GAPDH as a RNA control.