Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.

Abstract excerpt

A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis. Denaturing gradient gel electrophoresis was used to analyze all 44 exons coding for the triple-helical domain of COL2A1 gene and the corresponding exon-intron boundaries. The technique detected a new sequence variation in exon 35. Sequencing of exon 35 demonstrated a single base mutation that converted the codon...

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