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The Danish HD Registry-a nationwide family registry of HD families in Denmark.

Authors :
Gilling M
Budtz-Jørgensen E
Boonen SE
Lildballe D
Bojesen A
Hertz JM
Sørensen SA
Source :
Clinical genetics [Clin Genet] 2017 Sep; Vol. 92 (3), pp. 338-341. Date of Electronic Publication: 2017 Mar 28.
Publication Year :
2017

Abstract

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.<br /> (© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Details

Language :
English
ISSN :
1399-0004
Volume :
92
Issue :
3
Database :
MEDLINE
Journal :
Clinical genetics
Publication Type :
Academic Journal
Accession number :
28155235
Full Text :
https://doi.org/10.1111/cge.12984