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

Includes bibliographical references (leaves 113-124). === 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. H...

Full description

Bibliographic Details
Main Author:	Scholefield, Janine
Other Authors:	Greenberg, Jacquie
Format:	Dissertation
Language:	English
Published:	University of Cape Town 2014
Subjects:	Medicine
Online Access:	http://hdl.handle.net/11427/3460

id	ndltd-netd.ac.za-oai-union.ndltd.org-uct-oai-localhost-11427-3460
record_format	oai_dc
spelling	ndltd-netd.ac.za-oai-union.ndltd.org-uct-oai-localhost-11427-34602020-10-06T05:11:03Z Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease Scholefield, Janine Greenberg, Jacquie Goliath, Rene Medicine Includes bibliographical references (leaves 113-124). 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. 2014-07-29T09:10:20Z 2014-07-29T09:10:20Z 2005 Master Thesis Masters MSc http://hdl.handle.net/11427/3460 eng application/pdf University of Cape Town Faculty of Health Sciences Department of Medicine
collection	NDLTD
language	English
format	Dissertation
sources	NDLTD
topic	Medicine
spellingShingle	Medicine Scholefield, Janine Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease
description	Includes bibliographical references (leaves 113-124). === 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.
author2	Greenberg, Jacquie
author_facet	Greenberg, Jacquie Scholefield, Janine
author	Scholefield, Janine
author_sort	Scholefield, Janine
title	Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease
title_short	Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease
title_full	Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease
title_fullStr	Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease
title_full_unstemmed	Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease
title_sort	detailed investigation of the unstable (cag) repeat and the immediate surrounding region of the it15 gene in some south african families with huntington disease
publisher	University of Cape Town
publishDate	2014
url	http://hdl.handle.net/11427/3460
work_keys_str_mv	AT scholefieldjanine detailedinvestigationoftheunstablecagrepeatandtheimmediatesurroundingregionoftheit15geneinsomesouthafricanfamilieswithhuntingtondisease
_version_	1719348344001658880

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

Similar Items