Journal ArticleDOI
Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia
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TLDR
An Oligonucleotide ligation assay (OLA) is developed that enables to screen for high-risk individuals by testing for 19 common mutations in the LDL receptor and the apolipoprotein B genes using an automated genotyping-based two-step protocol and uses oligomeric pentaethyleneoxide mobility modifiers.Abstract:
More than half of all deaths in Western society are related to arteriosclerotic cardiovascular diseases. Inherited disturbances in the low-density-lipoprotein (LDL) receptor and similar lipid-related defects account for the majority of these deaths. Testing procedures thus far rely on total cholesterol, LDL cholesterol, high-density-lipoprotein cholesterol, and triglyceride determinations. These tests are not able to provide any genetic information. We have developed an oligonucleotide ligation assay (OLA) that enables us to screen for high-risk individuals by testing for 19 common mutations in the LDL receptor and the apolipoprotein B genes using an automated genotyping-based two-step protocol. The novel OLA uses oligomeric pentaethyleneoxide mobility modifiers. The automated test will be useful in screening large populations for genetic data to distinguish relative from absolute risk, as well as for cost-effective familial analysis.read more
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Chemistry, Biology, and Medicine of Fluorescent Nanomaterials and Related Systems: New Insights into Biosensing, Bioimaging, Genomics, Diagnostics, and Therapy
Jun Yao,Mei Yang,Yixiang Duan +2 more
TL;DR: This research presents new insights into Biosensing, Bioimaging, Genomics, diagnostics, Diagnostics, and Therapy from the research center of Analytical Instrumentation at Sichuan University.
Journal ArticleDOI
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.
TL;DR: These guidelines have been elaborated by a group of international experts with the intention to answer the main questions about heterozygous FH (heFH) subjects that physicians worldwide face in the diagnosis and management of these patients.
Journal ArticleDOI
Enabling Large-Scale Pharmacogenetic Studies by High-Throughput Mutation Detection and Genotyping Technologies
TL;DR: Large-scale genotyping is crucial to the identification of the genetic make-ups that underlie the onset of diseases and individual variations in drug responses, and enabling technologies to identify genetic polymorphisms rapidly, accurately, and cost effectively will dramatically impact future drug and development processes.
Journal ArticleDOI
High-Throughput SNP Genotyping by Allele-Specific PCR with Universal Energy-Transfer-Labeled Primers
TL;DR: The new method is well suited for high-throughput, automated genotyping because it requires only one reaction per SNP, it is performed in a single tube with no post-PCR handling, the same energy-transfer-labeled primers are used for all analyses, and the instrumentation is inexpensive.
Regulatory role for hepatic low density lipoprotein receptors in vivo in the dog (cholesterol synthesis inhibitor/mevinolin/bile acid sequestrant/colestipol/catabolism of plasma lipoproteins)
TL;DR: The current data suggest that the liver of dogs contains functional LDL receptors that are susceptible to metabolic regulation and that a drug-induced increase in the activity of these receptors can contribute to a lowering of plasma levels of LDL-cholesterol.
References
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Prevention of coronary heart disease with pravastatin in men with hypercholesterolemia. West of Scotland Coronary Prevention Study Group
J. Shepherd,Stuart M. Cobbe,Ian Ford,C. G. Isles,AR Lorimer,Peter W. Macfarlane,J. H. Mckillop,Christopher J. Packard +7 more
TL;DR: Treatment with pravastatin significantly reduced the incidence of myocardial infarction and death from cardiovascular causes without adversely affecting the risk of death from noncardiovascular causes in men with moderate hypercholesterolemia and no history of my Cardiac Infarction.
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Chelex 100 as a Medium for Simple Extraction of DNA for PCR-Based Typing from Forensic Material
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TL;DR: The extraction of DNA from semen and very small bloodstains using Chelex 100 is as efficient or more efficient than using proteinase K and phenol-chloroform extraction and DNA extracted from bloodstain seems less prone to contain PCR inhibitors when prepared by this method.
Prevention of coronary heart disease with pravastatin in men with hypercholesterolemia
J Ames S Hepherd,S Tuart M. C Obbe,I An F Ord,C Hristopher G. I Sles,A. R Oss L Orimer,P Eter W. M Acfarlane,J Ames H. M C K Illop,C Hristopher J. P Ackard,S Tudy G Roup +8 more
TL;DR: In this article, a double-blind study was designed to determine whether the administration of pravastatin to men with hypercho-lesterolemia and no history of myocardial infarction correlated with the combined incidence of nonfatal mycardial in-farction and death from coronary heart disease.
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