Fig. 4: Allele-specific amplification of HGD mRNA in Patient 3.
From: A novel deep intronic variant strongly associates with Alkaptonuria
a Allele-specific PCR was designed for the c.1084 G > A variant. The 1084 A allele is normal in splicing, while the 1084 G allele contains the cryptic exon. The positions of the primers are marked by blue arrows. b RT-PCR with the 1084 G wildtype primer gives the 1157-bp products (arrow) in the controls, but gives a major band with a higher molecular weight in the patient. There may be a small amount (18% by densitometry) of normal-size PCR products in the patient. RT-PCR with the 1084 A mutant primer gives the 1157-bp product (open arrow) in the patient but not in the controls.
