The investigation of the developmental biology and biochemistry of human cartilage and genetic diseases of cartilage formation has been hampered by the difficulty of obtaining sufficient quantities of human cartilage for standard biochemical techniques. The techniques of modern molecular biology afford and opportunity to bypass this problem. Using appropriate chick probes, I have become the first investigator to successfully isolate recombinant DNA clones containing human type II procollagen (cartilage specific collagen) gene sequences. I will now be able to use these clones to investigate the structure of the human type II collagen gene and to probe the genomes of patients with chondrodystrophies. The human chondrodystrophies are a group of 35 genetic diseases of varying severity which cause short stature and have histological abnormalities of cartilage. The current project has four goals: 1. Detailed structutal analysis of the entire human type II procollagen gene 2. Southern blot analysis of DNA from normal individuals and patients with chondrodystrophies using type II collagen probes in an attempt to demonstrate restriction fragment length polymorphisms 3. Develop a procedure for preparing RNA for Northern blot analysis from cartilage biopsies and to use this technique to analyze mRNA production in the chondrodystrophies. 4. Chromosome mapping of the human type II collagen gene by in situ hybridization.
| Eng, C E; Strom, C M (1987) New syndrome: familial proportionate short stature, intrauterine growth retardation, and recurrent locking of the fingers. Am J Med Genet 26:217-20 |
| Eng, C E; Strom, C M (1985) Analysis of three restriction fragment length polymorphisms in the human type II procollagen gene. Am J Hum Genet 37:719-32 |
| Eng, C E; Pauli, R M; Strom, C M (1985) Nonrandom association of a type II procollagen genotype with achondroplasia. Proc Natl Acad Sci U S A 82:5465-9 |
| Upholt, W B; Strom, C M; Sandell, L J (1985) Structure of the type II collagen gene. Ann N Y Acad Sci 460:130-40 |
