Strom, C., Eng, C., Christides, T., Belles, C. and Pauli, R. (1985) Detection of gene deletions in the human type II procollagen gene in 8 patients with achondroplasia using gene dosage analysis. Pediatric Research, 19 (254A):863. ISSN 0031-3998 (Print), 1530-0447 (Online) (doi:https://doi.org/10.1203/00006450-198504000-00893)

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Abstract

Type II collagen is the major collagen of cartilage. This study analyzed type II procollagen gene dosage in 34 patients with achondroplasia. Human genomic DNA was digested with BamHI, EcoRI and HindIII, and Southern filters prepared. Experiments using simultaneous hybridizations with pgHCol(II)A (Strom and Upholt, Nuc. Acids Res. 12:1025) and pG44 (an X-linked probe) demonstrated that, when normalized for the amount of X-linked hybridization, the DNA from 8 patients with sporadic achondroplasia exhibited half the procollagen hybridization as compared to the DNA of normal controls. The DNA of 2 of the achondroplasts exhibited a deletion of at least 20 kb from the 3' end of the gene as demonstrated by analogous experiments using pgHCol(II)E and F. The DNA from the other 6 achondroplasts with deletions have only been analyzed using pgHCol(II)A. The observations were confirmed using densitometric analysis. Incubations with varying restriction enzyme concentrations revealed that incomplete digestion was not responsible for the observations. The ends of the deletions have yet to be found. A genetic defect involving the type II procollagen gene is implicated in the etiology of achondroplasia.

Item Type:	Article
Uncontrolled Keywords:	Achondroplasia
Faculty / School / Research Centre / Research Group:	Faculty of Engineering & Science Faculty of Education, Health & Human Sciences > School of Human Sciences (HUM)
Last Modified:	09 Oct 2021 04:46
URI:	http://gala.gre.ac.uk/id/eprint/12353

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