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

M Gilling; E Budtz-Jørgensen; S E Boonen; Dorte Launholt Lildballe; A Bojesen; J M Hertz; S A Sørensen

doi:10.1111/cge.12984

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

M Gilling
, E Budtz-Jørgensen
, S E Boonen
, Dorte Launholt Lildballe
, A Bojesen
, J M Hertz
, S A Sørensen

KI, OUH, Forskningsenhed for Klinisk Genetik (Odense)

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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.

Originalsprog	Engelsk
Tidsskrift	Clinical Genetics
Vol/bind	92
Udgave nummer	3
Sider (fra-til)	338–341
ISSN	0009-9163
DOI	https://doi.org/10.1111/cge.12984
Status	Udgivet - 2017

Dokumenter og links

10.1111/cge.12984

SDU link

Tjek adgangen til materialet i Syddansk Universitetsbiblioteks søgemaskine

Citationsformater

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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.",

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doi = "10.1111/cge.12984",

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AU - Gilling, M

AU - Budtz-Jørgensen, E

AU - Boonen, S E

AU - Lildballe, Dorte Launholt

AU - Bojesen, A

AU - Hertz, J M

AU - Sørensen, S A

PY - 2017

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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 - Journal Article

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DO - 10.1111/cge.12984

M3 - Journal article

C2 - 28155235

SN - 0009-9163

VL - 92

SP - 338

EP - 341

JO - Clinical Genetics

JF - Clinical Genetics

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ER -

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

Abstract

Dokumenter og links

SDU link

Fingeraftryk

Citationsformater