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No common founder for C9orf72 expansion mutation in Sweden
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نویسنده
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Chiang Huei-Hsin ,Forsell Charlotte ,Lindström Anna-Karin ,Lilius Lena ,Thonberg Håkan ,Nennesmo Inger ,Graff Caroline
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منبع
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journal of human genetics - 2017 - دوره : 62 - شماره : 2 - صفحه:321 -324
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چکیده
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Hexanucleotide expansion mutations in the chromosome 9 open reading frame 72 (c9orf72) gene is the most common genetic cause for frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). snp haplotype analyses have suggested that all c9orf72 expansion mutations originate from a common founder. however, not all c9orf72 expansion mutation carriers have the same haplotype. to investigate if the c9orf72 expansion mutation carriers in sweden share a common founder, we have genotyped snps flanking the c9orf72 expansion mutation in cases with ftd, ftd–als or als to perform haplotype analysis. we have genotyped 57 snps in 232 cases of which 45 carried the c9orf72 expansion mutation. two risk haplotypes consisting of 31 snps, spanning 131 kbp, were found to be significantly associated with the mutation. in summary, haplotype analysis on swedish c9orf72 expansion mutation carriers indicates that the c9orf72 expansion mutation arose on at least two risk haplotypes.
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آدرس
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Center for Alzheimer Research, Department of NVS, Division for Neurogeriatrics, Sweden. Karolinska University Hospital, Department of Geriatric Medicine, Genetics unit, Sweden, Center for Alzheimer Research, Department of NVS, Division for Neurogeriatrics, Sweden. Karolinska University Hospital, Department of Geriatric Medicine, Genetics unit, Sweden, Center for Alzheimer Research, Department of NVS, Division for Neurogeriatrics, Sweden. Karolinska University Hospital, Department of Geriatric Medicine, Genetics unit, Sweden, Center for Alzheimer Research, Department of NVS, Division for Neurogeriatrics, Sweden. Karolinska University Hospital, Department of Geriatric Medicine, Genetics unit, Sweden, Center for Alzheimer Research, Department of NVS, Division for Neurogeriatrics, Sweden. Karolinska University Hospital, Department of Geriatric Medicine, Genetics unit, Sweden, Karolinska University Hospital, Department of Laboratory Medicine, Division of Pathology, Sweden, Center for Alzheimer Research, Department of NVS, Division for Neurogeriatrics, Sweden. Karolinska University Hospital, Department of Geriatric Medicine, Genetics unit, Sweden
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Authors
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