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. 2002 Dec 16;72(2):419–428. doi: 10.1086/346176

Figure 4.

Figure 4

Mutations in SMC. a, Chromatograms showing the two mutations identified in families R94-126 and R98-116. For the E87K mutation, shown above, the reading frame is underlined, and the arrow identifies the normal (above) and mutant (below) sequences. For the exon-skipping mutation, the smaller arrow identifies the normal (above) and mutant (below) sequences. The intron-exon junction is identified with a vertical line and marked with the larger arrow. Segregation of the mutations in each family is shown on the pedigrees to the right. b, Skipping of exon 8 in cartilage RNA from an affected member of each family. On the left, an image of the agarose gel used to separate the amplified cDNA fragments from cartilage of patient II-5 in family R94-126 (“A”) and patient III-2 in family R98-116 (“B”), along with a fragment derived from normal fetal cartilage (“C”). Fragment sizes are indicated to the left. The chromatogram on the right shows the sequence across the exon 7/exon 9 boundary, which is identified by a vertical line, in the shorter cDNA fragment from patient II-5 in family R94-126.