| Autor: |
Gilling, M., Budtz‐Jørgensen, E., Boonen, S.E., Lildballe, D., Bojesen, A., Hertz, J.M., Sørensen, S.A. |
| Předmět: |
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| Zdroj: |
Clinical Genetics; Sep2017, Vol. 92 Issue 3, p338-341, 4p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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