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The Danish HD Registry—a nationwide family registry of HD families in Denmark
Author(s) -
Gilling M.,
BudtzJørgensen E.,
Boonen S.E.,
Lildballe D.,
Bojesen A.,
Hertz J.M.,
Sørensen S.A.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12984
Subject(s) - danish , biobank , allele , demography , medicine , genetics , biology , gene , philosophy , linguistics , sociology
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.