The Danish HD Registry: a nationwide family registry of HD families in Denmark
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The Danish Huntington's Disease Registry (DHR) is a nationwide family registry comprising 14 245 individuals from 445 Huntington's disease (HD) families of which the largest family includes 845 individuals in 8 generations. 1136 DNA and/or blood samples and 18 fibroblast cultures are stored in a local biobank. The birthplace of the oldest HD carrier in each of the 261 families of Danish origin was unevenly distributed across Denmark with a high number of families in the middle part of the peninsula Jutland and in Copenhagen, the capital. The prevalence of HD in Denmark was calculated to be 5-8:100 000. 1451 individuals in the DHR had the size of the HTT CAG repeat determined of which 975 had 36 CAG repeats or more (mean ± SD: 43,5 ± 4,8). Two unrelated individuals were compound heterozygous for alleles ≥36 CAGs, and 60 individuals from 34 independent families carried an intermediate allele.
Originalsprog | Engelsk |
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Tidsskrift | Clinical Genetics |
Vol/bind | 92 |
Udgave nummer | 3 |
Sider (fra-til) | 338-341 |
ISSN | 0009-9163 |
DOI | |
Status | Udgivet - 2017 |
ID: 183009896