HTT haplogroups in Finnish patients with Huntington disease.

ABSTRACT:

Objective

To study genetic causes of the low frequency of Huntington disease (HD) in the Finnish population, we determined HTT haplogroups in the population and patients with HD and analyzed intergenerational Cytosine-Adenosine-Guanosine (CAG) stability.

Methods

A national cohort of patients with HD was used to identify families with mutant HTT (mHTT). HTT haplogroups were determined in 225 archival samples from patients and from 292 population samples. CAG repeats were phased with HTT haplotypes using data from parent-offspring pairs and other mHTT carriers in the family.

Results

The allele frequencies of HTT haplotypes in the Finnish population differed from those in 411 non-Finnish European subjects (p < 0.00001). Th

SUBMITTER: Ylonen S 

PROVIDER: S-EPMC6481225 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature