Document Detail

Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
MedLine Citation:
PMID:  16542394     Owner:  NLM     Status:  MEDLINE    
The lipid disorder familial hypercholesterolemia (FH) predisposes to cardiovascular disease. With a prevalence of approximately one in 500 in the general Caucasian population, FH is one of the most frequent single-gene disorders. As the mutational spectra vary between populations, it is crucial to identify the mutations in a given population in order to implement a molecular genetic screening strategy. A total of 1053 referred individuals with clinical signs of FH were investigated, and mutations were identified in 425 individuals. Fifty-four different mutations were identified, of which 13 are novel. The five most frequent mutations accounted for 56.3% of all disease-causing mutations. The majority of the remaining mutations were of a private nature only encountered in single families. In this study, a reliable molecular genetic screening protocol was established, and the relevance of performing presymptomatic genetic analysis as part of a preventive strategy was documented. We have acquired knowledge of the mutational spectra in the Danish population and thus will be able to trace mutations in their relatives through our index cases.
K Brusgaard; P Jordan; H Hansen; A B Hansen; M Hørder
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  69     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-03-17     Completed Date:  2006-05-25     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  277-83     Citation Subset:  IM    
Department of Clinical Biochemistry and Clinical Genetics, Odense University Hospital, Odense C, Denmark.
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MeSH Terms
Apolipoprotein B-100
Apolipoproteins B / genetics
Genetic Testing
Hyperlipoproteinemia Type II / blood,  genetics*
Molecular Biology
Receptors, LDL / genetics
Reg. No./Substance:
0/Apolipoprotein B-100; 0/Apolipoproteins B; 0/Receptors, LDL

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