Fluorescent molecular cytogenetics: Preimplantation diagnosis, colorectal cancer and mapping chromosome 9q.

Abstract

The technique of fluorescent in-situ hybridisation (FISH) on to metaphase and interphase nuclei has many applications. In this thesis, FISH has been used in three areas of research:- Preimplantation diagnosis, genetics of colorectal cancer and early stages in mapping the terminal region of chromosomal 9q to search for the tuberous sclerosis locus (TSC1). Linkage data has suggested possible tuberous sclerosis loci on chromosomes 9, 11, and/or 12. In this study a hybrid was screened by FISH and found to contain only chromosome 9q. Fragment hybrids made from this were also screened. Phage clones isolated from a hybrid containing three small human pieces and clones linked to TSC1 were mapped to chromosome 9q. Cosmid clones isolated from the original hybrid were also mapped

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