کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1999830 1065875 2006 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E variation
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E variation
چکیده انگلیسی

Apolipoprotein E (APOE) is an important gene whose common polymorphism, and precisely the e ∗ 4 allele, has been reportedly associated with some disorders, including Alzheimer’s disease (AD) and coronary artery disease. In the course of previous surveys on AD patients and healthy individuals some rare variants were detected by means of Isoelectric focusing and denaturing high-performance liquid chromatography techniques. After a mutation in a gene is identified, the problem arises to understand its effective significance. Structure modelling and phylogenetic analysis methods are widely used to establish the possible deleterious effect of mutations. In this study their usefulness in the analysis of APOE variants was evaluated. The two combined methods provided helpful indications for distinguishing between mutations possibly involved in AD susceptibility and not deleterious mutations.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 89, Issue 3, November 2006, Pages 261–269
نویسندگان
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