Figure 2. A: Three different PCR–single stranded conformational analysis patterns on one gel, representing COL4A4 exons 9, 10, and 42. PCR fragments were loaded in succession from shortest to longest PCR fragment at 30-min intervals. Exons
9 and 10 did not show any differences in elution shifts; in exon 42, different patterns were subsequently sequenced. B: Partial sequence of exon 42, made with reverse primer, showing homozygous substitution 1327M (3797AA). The position marked
on reverse sequence is 3797TT. C: Partial sequence of exon 42, made with reverse primer, showing homozygous substitution 1327V (3797GG). The position marked
on reverse sequence is 3797CC. '1/1',’1/2’ and '2/2' denote different genotypes at position 1327 in COL4A4. Single stranded DNA (ssDNA) and double stranded DNA (dsDNA) patterns are marked on the side of the SSCA gel.