A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations.

doi:10.1038/sj.ejhg.5201796

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Article

A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations.

European journal of human genetics : EJHG - 1 May 2007

Scholefield Janine, Greenberg Jacquie

Abstract excerpt

This study involved the detailed investigation of the region surrounding the huntingtin gene in families with a history of Huntington Disease (HD) in South Africa. The primary aim was to investigate the origins of the HD mutation in South Africa by constructing a single-nucleotide polymorphism (SNP) haplotype around the HD gene and to determine how many haplotypes there are in two different South African...

Topics

Computational Biology
Founder Effect
Gene Frequency
Haplotypes
Humans
Huntingtin Protein
Huntington Disease
Mutation
Nerve Tissue Proteins
Nuclear Proteins
Polymorphism, Single Nucleotide
Software
South Africa

Source

Open in PubMed

Identifiers

PMID: 17327878
DOI: 10.1038/sj.ejhg.5201796

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