Molecular Genetic Studies in Achondroplasia
The clinical phenotype of achondroplasia has been extensively covered by other speakers in this symposium. In summary, the condition is a dominantly inherited form of rhizomelic dwarfism with an incidence estimated between 1/20,000 and 1/50,000 live births (1). The mutation presents as a primary disorder of bone growth; manifestations in other systems, such as the neuroaxis (2), appear to result from bony impingement. Because the achondroplasia gene acts principally at the growth plate, those gene products which are known to be structurally crucial to cartilage have naturally come under investigation in the search for the cause of achondroplasia.
KeywordsGrowth Plate Collagen Gene COL2A1 Gene Important Structural Component Bony Impingement
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- 1.D. L. Rimoin, The chondrodystrophies. Adv. Hum. Genet. 5:1 (1974).Google Scholar
- 5.A. Pedrini-Mille and V. Pedrini, Proteoglycans and glycosaminoglycans of human achondroplastic cartilage, J. Bone Joint Surg. (Am.) 64:39 (1982).Google Scholar
- 6.C. Huerre, C. Junien, D. Weil, M. L. Chu, M. Morabito, N. Van Cong, J. C. Myers, C. Foubert, M. S. Gross, D. J. Prockop, A. Boue, J. C. Kaplan, A. de la Chapell and F. Ramirez, Human type I procollagen genes are located on different chromosomes, Proc. Nat. Acad. Sci. USA 79:6627 (1982).PubMedCrossRefGoogle Scholar
- 8.M. B. Goldring, L. J. Sandell, M. L. Stephenson and S. M. Krane, Immune interferon suppresses levels of procollagen mRNA and type II collagen synthesis in cultured human articular and costal chondrocytes, J. Biol. Chem. 19:9049 (1986).Google Scholar
- 16.P. Tsipouras, F. O. Sangiorgi, M. L. Chu, D. Weil, R. C. Schwartz and F. Ramirez, DNA markers associated with the human procollagen genes, (HGM8) Cytogenet. Cell Genet. 40:762 (1985).Google Scholar
- N. G. Stoker, K.S.E. Cheah, J. Griffin and E. Solomon, A highly polymorphic region 3’ to the human type II collagen gene (C0L2A1) on chromosome 12, (HGM8) Cytogenet. Cell Genet. 40:754 (1985) (abs.).Google Scholar
- 18..B. Sykes, Personal communication (1986).Google Scholar