This proposal involves the application of in vitro DNA amplification and synthetic DNA probes to the clinical analysis of genetic disease. The first phase of this project analyzed four of the more informative DNA probes linked to cystic fibrosis. Phase II will expand this analysis to additional cystic fibrosis markers, as well as those for Huntington's disease, hemophilia A and B, and Duchenne's muscular dystrophy. We will investigate issues of general technology applicable to disease diagnosis by DNA amplification. Protocols for the specific application of these methods to routine clinical analysis will also be developed. The speed and accuracy of this technique is expected to have significant effects on the clinical determination of the inheritance of genetic disease.
| Richards, B; Skoletsky, J; Shuber, A P et al. (1993) Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 2:159-63 |
| Richards, B; Heilig, R; Oberle, I et al. (1991) Rapid PCR analysis of the St14 (DXS52) VNTR. Nucleic Acids Res 19:1944 |
| Richards, B; Horn, G T; Merrill, J J et al. (1991) Characterization and rapid analysis of the highly polymorphic VNTR locus D4S125 (YNZ32), closely linked to the Huntington disease gene. Genomics 9:235-40 |
| Horn, G T; McClatchey, A I; Richards, B et al. (1991) Detection by PCR of a VNTR polymorphism at D4S43. Nucleic Acids Res 19:4772 |
| Allitto, B A; Horn, G T; Altherr, M R et al. (1991) Detection by PCR of the VNTR polymorphism at D4S95. Nucleic Acids Res 19:4015 |
| Klinger, K W; Stanislovitis, P; Merrill, J et al. (1991) Molecular and genetic analyses at the CF locus. Adv Exp Med Biol 290:39-43;discussion 43-4 |
| Horn, G T; Richards, B; Merrill, J J et al. (1990) Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus. Clin Chem 36:1614-9 |
