Screening for Mutations in Cartilage ECM Genes - Methods in Molecular Biology: Extracellular Matrix Protocols - page 137

5. Sequencing with the M13 forward and reverse primers usually allows the entire

plasmid insert to be read (up to 500-600 bp per reaction). Sequencing with the
PCR primers will result in the loss of the first 20-30 bp of the insert.

6. Most large university or research centers have a DNA-sequencing facility. If this

is not readily available, there are numerous companies who provide this service.

Acknowledgments
This research was supported by the Arthritis Research Campaign

References
1. International Working Group on Constitutional Diseases of Bone (1992) Interna-
tional classification of osteochondrodysplasias. Am. J. Med. Genet. 44, 223-229.
2. Rimoin, D. L. and Lachman, R. S. (1993) Genetic disorders of the osseous
skeleton, in McKusick's Heritable Disorders of Connective Tissue, 5th ed.
(Beighton, P., ed.), Mosby-Year Book, Inc., St. Louis, MO, pp. 557-689.
3. Francomano, C. A., McIntosh, I., and Wilkin, D. J. (1996) Bone dysplasias in
man: molecular insights. Curr. Opinion Genes Dev. 6, 301-308.
4. Muragaki, Y., Mariman, E. C. M., van Beersum, S. E. C., Perala, M., van Mourik, J. B. A.,
Warman, M. L., et al. (1996) A mutation in the gene encoding the alpha-2 chain of the
fibril-associated collagen IX, COL9A 2, causes multiple epiphyseal dysplasia (EDM2).
Nat. Genet. 12, 103-105.
5. Hecht, J. T., Nelson, L. D., Crowder, E., Wang, Y., Elder, F. F. B., Harrison, W. R.,
et al. (1995) Mutations in exon 17B of cartilage oligomeric matrix protein (COMP)
cause pseudoachondroplasia. Nat. Genet. 10, 325-329.
6. Briggs, M. D., Hoffman, S. M. G., King, L. M., Olsen, A. S., Mohrenweiser, H.,
Leroy, J. G., et al. (1995) Pseudoachondroplasia and multiple epiphyseal dyspla-
sia due to mutations in the cartilage oligomeric matrix protein gene . Nat. Genet.
10, 330-336.
7. Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E.,
Goldring, M. B., van Beersum, S. E. C., de Waal, Malefijt, M. C., et al. (1995)
Autosomal dominant and recessive osteochondrodysplasias associated with the
COL11A2 locus. Cell 80, 431-437
8. Hästbacka, J., de la Chapella, A., Mahtani, M. M., Clines, G., Reeve-Daly, M. P.,
Daly, M., et al. (1994) The diastrophic dysplasia gene encodes a novel sulfate
transporter: positional cloning by fine-structure linkage disequilibrium mapping.
Cell 78, 1073-1087.
9. Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T. W., McIntosh, I., Cohn, D. H.,
et al. (1993) A mutation in the human type X collagen gene in a family with
Schmid metaphyseal chondrodysplasia. Nat. Genet. 5, 79-82.
10. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K., and Sekiya, K. (1989) Detec-
tion of polymorphisms of human DNA by gel electrophoresis as single-stranded
conformation polymorphisms. Proc. Natl. Acad. Sci. USA 86, 2766-2770.
11. Ganguly, A., Rock, J. M., and Prockop, D. J. (1993) Proc. Natl. Acad. Sci. USA
90, 10,325-10,329.