Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease

Master Thesis

2005

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University of Cape Town

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Abstract
The primary aim of this study was to investigate the origins of the HD mutation in South Africa (SA) by constructing a single nucleotide polymorphism (SNP) haplotype around the IT15 gene and to determine how many haplotypes there are in SA. Haplotypes were created by genotyping 6 SNPs in a total of 15 HD families. These families were comprised of seven Caucasian, 6 Mixed Ancestry and two Black African families.
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Includes bibliographical references (leaves 113-124).

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