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Abstract
Trinucleotide (CAG) repeat expansions longer than 39 in the huntingtin (HTT) gene cause Huntington’s disease (HD). The frequency of intermediate alleles (IA) with a length of 27–35 in the general population is not fully known, but studied in specific materials connected to the incidence of HD. The Swedish Huntingtin Alleles and Phenotype (SHAPE) study aims to assess the frequency of trinucleotide repeat expansions in the HTT gene in north Sweden. 8260 individuals unselected for HD from the counties of Norr- and Västerbotten in the north of Sweden were included. DNA samples were obtained and analysis of the HTT gene was performed, yielding data on HTT gene expansion length in 7379 individuals. A high frequency of intermediate alleles, 6.8%, was seen. Also, individuals with repeat numbers lower than ever previously reported (<5) were found. These results suggest a high frequency of HD in the norther parts of Sweden. Subsequent analyses may elucidate the influence of IA:s on traits other than HD.
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1 Uppsala University, Department of Neuroscience, Neurosurgery, Uppsala, Sweden (GRID:grid.8993.b) (ISNI:0000 0004 1936 9457)
2 Uppsala University, Department of Neuroscience, Neurology, Uppsala, Sweden (GRID:grid.8993.b) (ISNI:0000 0004 1936 9457)
3 Uppsala University, Science for Life Laboratory (SciLifeLab), Department of Immunology, Genetics, and Pathology, Uppsala, Sweden (GRID:grid.8993.b) (ISNI:0000 0004 1936 9457)
4 Umeå University, The Biobank Research Unit, Umeå, Sweden (GRID:grid.12650.30) (ISNI:0000 0001 1034 3451)
5 Umeå University, Department of Public Health and Clinical Medicine, Research Unit Skellefteå, Umeå, Sweden (GRID:grid.12650.30) (ISNI:0000 0001 1034 3451)
6 Umeå University, Department of Public Health and Clinical Medicine, Heart Centre, Umeå, Sweden (GRID:grid.12650.30) (ISNI:0000 0001 1034 3451)
7 Uppsala University, Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala, Sweden (GRID:grid.8993.b) (ISNI:0000 0004 1936 9457)