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SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population




TekijätPasanen P, Palin E, Pohjolan-Pirhonen R, Pöyhönen M, Rinne JO, Päivärinta M, Martikainen MH, Kaasinen V, Hietala M, Gardberg M, Saukkonen AM, Eerola-Rautio J, Kaakkola S, Lyytinen J, Tienari PJ, Paetau A, Suomalainen A, Myllykangas L

KustantajaElsevier Inc.

Julkaisuvuosi2017

JournalNeurobiology of Aging

Vuosikerta50

Aloitussivu168.e5

Lopetussivu168.e8

Sivujen määrä4

ISSN0197-4580

eISSN1558-1497

DOIhttps://doi.org/10.1016/j.neurobiolaging.2016.10.014


Tiivistelmä

Mutations in SNCA are rare causes of familial Parkinson's disease (PD). We have previously described a novel p.Ala53Glu mutation in 2 Finnish families. To assess this mutation's frequency among Finnish PD patients, we screened 110 PD patients (mean age-of-onset 60 years) from Western Finland by Sanger sequencing of the third coding exon of SNCA. In addition, a sample of 47 PD subjects (mean age-of-onset 53 years) originating from Southern and Eastern Finland were studied using next-generation sequencing covering SNCA. Only one new individual with the p.Ala53Glu mutation was identified, confirming that this mutation is a rare cause of PD in the Finnish population. To search for a possible common origin of the p.Ala53Glu mutation, haplotype analysis was conducted in 2 families and in a patient from a third family (6 affected subjects) using both STR markers and a genome-wide SNP array. The results show that patients with the p.Ala53Glu mutation share a haplotype spanning a minimum of 5.7 Mb suggesting a common founder.



Last updated on 2024-26-11 at 23:25