Figure 5 .

COL2A1 cDNA sequencing. Sequencing of cDNA amplified from an individual (MS20 C) with a nonsense mutation in exon 42 showed loss of heterozygosity when compared with the genomic sequence (MS20 G). Amplified cDNA from MS16 and MS25 showed heterozygosity for the mutations seen in genomic DNA (fig. 1).