| A novel point mutation (Pro84-->Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia. | |
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MedLine Citation:
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PMID: 9137885 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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To obtain insight into the possibility that genetic variation of the structure of the low density lipoprotein (LDL) receptor protein could result in subtle changes of serum cholesterol levels, we used single-strand conformation polymorphism (SSCP) to screen all 18 exons of the LDL receptor gene in a panel of subjects with moderate hypercholesterolemia. One novel mutation, replacing C to T at nucleotide 313 and predicted to cause a substitution of serine for proline at codon 84, was identified in a single proband. A convenient PCR assay based on the use of primer-introduced restriction fragment length polymorphism was set up for the detection of this mutation. However, the pathophysiologic significance of the Pro84-->Ser replacement remains to be clarified, as serum LDL cholesterol levels were not significantly higher in mutation carriers vs. non-carriers in the affected family, and no other proband was identified, on screening of DNA samples from 350 Finns. The Pro84-->Ser mutation represents the second single-amino acid change of the LDL receptor protein so far reported which is not associated with the clinical phenotype of familial hypercholesterolemia. |
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Authors:
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A F Vuorio; H Turtola; K Kontula |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinical genetics Volume: 51 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1997 Mar |
Date Detail:
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Created Date: 1997-06-12 Completed Date: 1997-06-12 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 191-5 Citation Subset: IM |
Affiliation:
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Institute of Biotechnology, University of Helsinki, Finland. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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DNA Primers Exons Genetic Markers Humans Hyperlipoproteinemia Type II / genetics* Pedigree Point Mutation* Polymerase Chain Reaction Receptors, LDL / genetics* Sequence Analysis, DNA |
| Chemical | |
Reg. No./Substance:
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0/DNA Primers; 0/Genetic Markers; 0/Receptors, LDL |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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