Figure 4.

Allelic variation in MCCA expression. A sample of electrospherograms of SnuPE products from the sense strand of RT-PCR–amplified DNA from patient MCC047 and his mother and from patient MCC048. Mobility of tetramethyl-6-carboxyrhodamine (TAMRA)–labeled allele-specific SnuPE is shown for the MCCA polymorphic variant c.1391C→A (MCCA-P464H). Each peak represents a specific allelic variant. Allele 1 with an A nucleotide at c.1391 encodes 464H, whereas allele 2 with a C nucleotide at c.1391 encodes 464P and the functionally significant 385S. The relative quantification of each allele represents the mean and range of two independent experiments performed on fibroblast RNA.