Publication date: Jun 01, 2019
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.
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.
The allele frequencies of HTT haplotypes in the Finnish population differed from those in 411 non-Finnish European subjects (p
The low frequency of HD in Finland is partly explained by the low frequency of the HD-associated haplogroup A in the Finnish population. There were remarkable differences in intergenerational CAG repeat dynamics that depended on HTT haplotype and parent gender.
Open Access PDF
Yl”onen, S., Sipil”a, J.O.T., Hietala, M., and Majamaa, K. HTT haplogroups in Finnish patients with Huntington disease. 06509. 2019 Neurol Genet (5):3.