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

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.

Grantor dc:publisher.institution

Department of Medicine

Year dc:date.issued

2005

Author dc:creator

• Scholefield, Janine

Advisors dc:contributor.advisor

• Greenberg, Jacquie
• Goliath, Rene

Language dc:language.iso

eng

Handle dc:identifier.uri

http://hdl.handle.net/11427/3460

OAI identifier oai:identifier

oai:open.uct.ac.za:11427/3460