Fig. 2: Results of RT-PCR analysis.
From: A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
a The diagram shows alternatively spliced exons of MLH1. The intron 6 splicing variant was validated by designing primers b and c within intron 6 (Intron 6: 2915 bp). A white box represents an exon, and a black box shows an intron. b Normal mRNA was also detected (PCR product by primer a and d, 157 bp), so this mutation is heterozygous. c Abnormal mRNA including intron 6 was detected (PCR product by primer a and b, 373 bp). d Abnormal mRNA including intron 6 (primer c and d, 359 bp) and introns 6 and 7 (PCR product by primer c and d, 507 bp) were detected
