Distribution of the HTT Gene A1 and A2 Haplotypes Worldwide: A Systematic Review.

ABSTRACT:

Background

Huntington's disease (HD)(MIM:143100) is an severe autosomal dominant neurodegenerative disease caused by the dynamic expansion of CAG trinucleotides (> 35) in the HTT gene [Genomic Coordinates- (GRCh38):4:3,074,680-3,243,959].

Objectives

The aim of this systematic review was to investigate the reported associations between the frequencies of the A1 and A2 haplotypes in HD-affected and non-affected populations from different countries on different continents, in order to demonstrate the overall profile of these haplotypes worldwide, pointing towards the most frequent haplotypes that could be useful for HTT mutant-specific allele silencing in different populations.

Methods

Publications in MEDLINE (PubMed) and Embase from the last 10 years (PROS

SUBMITTER: Apolinario TA 

PROVIDER: S-EPMC7735449 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature