The Danish HD Registrya nationwide family registry of HD families in Denmark

被引：8

作者：

Gilling, M. ^{[1
,2
]}

Budtz-Jorgensen, E. ^{[3
]}

Boonen, S. E. ^{[4
,5
]}

Lildballe, D. ^{[4
]}

Bojesen, A. ^{[6
]}

Hertz, J. M. ^{[7
]}

Sorensen, S. A. ^{[1
]}

机构：

[1] Univ Copenhagen, Inst Cellular & Mol Med, Panum Inst, Dept Neurogenet, Copenhagen, Denmark

[2] Univ Ulm, European Huntingtons Dis Network, Ulm, Germany

[3] Univ Copenhagen, Inst Publ Hlth, Dept Biostat, Copenhagen, Denmark

[4] Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark

[5] Zealand Univ Hosp, Dept Paediat, Clin Genet Unit, Roskilde, Denmark

[6] Vejle Hosp, Dept Clin Genet, Vejle, Denmark

[7] Odense Univ Hosp, Dept Clin Genet, Odense, Denmark

来源：

CLINICAL GENETICS | 2017年 / 92卷 / 03期

关键词：

Denmark; family registry; HTT; CAG repeat; Huntington's disease; HUNTINGTON-DISEASE; POPULATION; MUTATION; REPEAT; GENE;

D O I：

10.1111/cge.12984

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 HTTCAG 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.

引用

页码：338 / 341

页数：4

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