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Physical analysis of the chromosome 9q34 region containing the gene for tuberous sclerosis (TSC1)

Fitzgibbon, Jude; (1993) Physical analysis of the chromosome 9q34 region containing the gene for tuberous sclerosis (TSC1). Doctoral thesis (Ph.D), UCL (University College London). Green open access

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Abstract

Tuberous Sclerosis (TSC) is an autosomal dominant disorder with a prevalence of 1 in 10,000 births. The disorder is genetically heterogeneous and is characterised by a combination of neurological and cutaneous abnormalities. One of the genes responsible for the disease, designated TSC1 (for Tuberous Sclerosis Complex 1) has been mapped to chromosome 9q34 by linkage analysis. This thesis describes the attempts made to identify the TSC1 gene using the positional cloning approach. A panel of radiation reduced hybrid lines was constructed from a somatic cell hybrid line retaining a chromosome 9q as its only human material. Several hybrids retained fragments from the TSC1 region and a subset of these were used to construct a deletion map across the region using previously localised genetic markers. This deletion panel was used to map the Retinoid X Receptor (RXR) alpha locus to chromosome 9q34 and the chromosome position of other members of the RXR family of nuclear receptors were considered as potential candidate genes for the other TSC loci. Genomic libraries were constructed from two irradiation hybrid lines to generate cloned material from the TSC1 region. Genomic clones were also isolated for a number of mapped genetic loci while further cloned material was identified through the use of Alu-PCR probes derived from 9q34 containing hybrids.

Type: Thesis (Doctoral)
Qualification: Ph.D
Title: Physical analysis of the chromosome 9q34 region containing the gene for tuberous sclerosis (TSC1)
Open access status: An open access version is available from UCL Discovery
Language: English
Additional information: Thesis digitised by ProQuest.
Keywords: Biological sciences; Chromosome 9q34; Gene; Tuberous sclerosis
URI: https://discovery.ucl.ac.uk/id/eprint/10101758
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