TARDBP mutations are not a frequent cause of ALS in Finnish patients.
作者： Tiina Suominen , Sini Penttilä , Johanna Palmio , Hanna-Kaisa Mentula , Laura Tuovinen
DOI:
关键词: Cohort 、 Amyotrophic lateral sclerosis 、 Intron 、 genomic DNA 、 TARDBP 、 Mutation testing 、 Silent mutation 、 Genetics 、 Exon 、 Bioinformatics 、 Biology
摘要: In previous studies 1-3 % of ALS patients have TARDBP mutations as the cause disease. been reported in different populations but so far there are no on frequency Finnish patients. A cohort 50 patients, 44 SALS and 6 FALS were included study. Genomic DNA was extracted from venous blood or muscle tissue a mutation analysis performed. No definitely pathogenic could be identified our patient cohort. However, two previously unknown variations found: one silent exon 2 relatively deep intronic single nucleotide insertion intron 5. addition, known non-pathogenic polymorphisms 5 detected. The size is obviously not large enough to conclusively exclude very rare Finland. based results do appear frequent familial sporadic
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