The Danish HD Registry: a nationwide family registry of HD families in Denmark
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The Danish HD Registry : a nationwide family registry of HD families in Denmark. / Gilling, M.; Budtz-Jorgensen, E.; Boonen, S. E.; Lildballe, D.; Bojesen, A.; Hertz, J. M.; Sorensen, S. A.
I: Clinical Genetics, Bind 92, Nr. 3, 2017, s. 338-341.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - The Danish HD Registry
T2 - a nationwide family registry of HD families in Denmark
AU - Gilling, M.
AU - Budtz-Jorgensen, E.
AU - Boonen, S. E.
AU - Lildballe, D.
AU - Bojesen, A.
AU - Hertz, J. M.
AU - Sorensen, S. A.
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - Denmark
KW - family registry
KW - HTT
KW - CAG repeat
KW - Huntington's disease
U2 - 10.1111/cge.12984
DO - 10.1111/cge.12984
M3 - Journal article
C2 - 28155235
VL - 92
SP - 338
EP - 341
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 3
ER -
ID: 183009896