Abstract
Achondroplastic dwarfism is an autosomal dominant disorder in which 90% of cases represent new mutations. The molecular mechanisms of the disruption of normal cartilage and endochondral bone formation remain unelucidated. Type II collagen is the major collagen of cartilage and plays an important role in stabilizing the extracellular matrix. In this study, fibroblast DNA from a patient with classical sporadic achondroplasia and peripheral white cell DNA from her parents with normal stature were analyzed. Southern filters were prepared following BamHl digestion and were probed with pgHCol(II)al, a probe to the carboxypropeptide and triple helical region of the human type II procollagen gene (Strom, C. and Upholt, W.B., Nucleic Acids Res., in press). The DNA from both parents showed only the normal 4.2kb band. The achondroplastic DNA, however, showed a faint band at 4.2kb and a denser band at 6.2kb. Further analysis revealed that the polymorphic 6.2kb band is due to an insertion of DNA sequences complementary to the pgHCol(II)al probe near the 3' end of the type II collagen gene. This is the first demonstration of type II collagen gene changes in the human chondrodystrophies.
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Strom, C. ACHONDROPLASIA DUE TO DNA INSERTION INTO THE TYPE II COLLAGEN GENE. Pediatr Res 18 (Suppl 4), 226 (1984). https://doi.org/10.1203/00006450-198404001-00800
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DOI: https://doi.org/10.1203/00006450-198404001-00800
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