Document Detail


Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
MedLine Citation:
PMID:  16542394     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
K Brusgaard; P Jordan; H Hansen; A B Hansen; M Hørder
Related Documents :
3198114 - A new ldl receptor gene deletion mutation in the south african population.
12690214 - Lipoprotein lipase (lpl) gene variation and progression of carotid artery plaque.
8723684 - Phenotypic expression in double heterozygotes for familial hypercholesterolemia and fam...
16704534 - Association of low density lipoprotein receptor related protein-associated protein (lrp...
9834854 - Randomly amplified polymorphic dna (rapd) for evaluating genetic relationships among va...
18194164 - Insight into the genetic bases of climatic adaptation in experimentally evolving wheat ...
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    
Affiliation:
Department of Clinical Biochemistry and Clinical Genetics, Odense University Hospital, Odense C, Denmark. klaus.brusgaard@ouh.fyns-amt.dk
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Apolipoprotein B-100
Apolipoproteins B / genetics
Denmark
Female
Genetic Testing
Humans
Hyperlipoproteinemia Type II / blood,  genetics*
Male
Molecular Biology
Mutation
Receptors, LDL / genetics
Chemical
Reg. No./Substance:
0/Apolipoprotein B-100; 0/Apolipoproteins B; 0/Receptors, LDL

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  A novel homozygous MMP2 mutation in a family with Winchester syndrome.
Next Document:  Nitrate-dependent anaerobic carbon monoxide oxidation by aerobic CO-oxidizing bacteria.