Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.

ABSTRACT:

Introduction

Knowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in Spinocerebellar Ataxia Type 3, the most common autosomal dominantly inherited ataxia. Single nucleotide polymorphisms associated to the disease-causing gene, ATXN3, have been determined. We wanted to investigate the frequency and regional distribution of two intragenic single nucleotide polymorphisms (SNPs) in a large European SCA3 cohort and their relation to the clinical phenotype.

Methods

The genotypes of the two polymorphisms at base pair positions 987 and 1118 of the ATXN3 were determined for their co-localization on the normal and expanded allele, respectively, in 286 SCA3

SUBMITTER: Elter TL 

PROVIDER: S-EPMC11638412 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature