Document Detail

Familial defective apolipoprotein B-100: a study of patients from lipid clinics in Scotland and Wales.
MedLine Citation:
PMID:  8888978     Owner:  NLM     Status:  MEDLINE    
Familial defective apolipoprotein (apo) B-100 (FDB) is an autosomal codominant disorder, which may be associated with hypercholesterolaemia. The defect is caused by the substitution of glutamine for arginine at amino acid residue 3500 of apo B-100. A total of 357 hypercholesterolaemic patients, 48 with a clinical diagnosis of familial hypercholesterolaemia attending lipid clinics in Scotland and Wales, were screened for the presence of FDB. Seven unrelated individuals, five of whom had a family history of coronary heart disease, and a further 11 first-degree relatives, were shown to be heterozygous for the mutation. Pedigree analysis demonstrated the mutation to be present on a single haplotype, suggesting that in Britain it is inherited from a common ancestor. Treatment of 11 heterozygous individuals with lipid-lowering medication showed falls in total and low density lipoprotein cholesterol ranging from 11.6 to 38.8% and 5.3 to 49.5%, respectively. In view of the condition's association with coronary heart disease and hypercholester-olaemia, it may be worthwhile identifying carriers attending lipid clinics, so that affected siblings can be offered cholesterol-lowering treatment where necessary.
P R Wenham; P Bloomfield; G Blundell; M D Penney; P W Rae; S W Walker
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of clinical biochemistry     Volume:  33 ( Pt 5)     ISSN:  0004-5632     ISO Abbreviation:  Ann. Clin. Biochem.     Publication Date:  1996 Sep 
Date Detail:
Created Date:  1997-02-04     Completed Date:  1997-02-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0324055     Medline TA:  Ann Clin Biochem     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  443-50     Citation Subset:  IM    
Department of Clinical Biochemistry, Western General Hospital, Edinburgh, UK.
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MeSH Terms
Aged, 80 and over
Apolipoprotein B-100
Apolipoproteins B / deficiency*,  genetics
Electrophoresis, Polyacrylamide Gel
Hypercholesterolemia / blood*,  epidemiology,  genetics
Middle Aged
Restriction Mapping
Scotland / epidemiology
Wales / epidemiology
Reg. No./Substance:
0/Apolipoprotein B-100; 0/Apolipoproteins B

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

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