کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2778039 1568044 2009 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Functional variants of the human 5-lipoxygenase gene and their genetic diagnosis
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوشیمی بالینی
پیش نمایش صفحه اول مقاله
Functional variants of the human 5-lipoxygenase gene and their genetic diagnosis
چکیده انگلیسی

Variants in the 5-lipoxygenase (ALOX5) gene are first-line candidate causes for interindividual differences in diseases where leukotrienes play a key role, e.g., inflammatory and immune diseases, atherosclerosis, asthma or the acute respiratory distress syndrome (ARDS). We developed and validated Pyrosequencing™ screening assays for single nucleotide polymorphism (dbSNP-IDs rs4986832, rs4987105, rs2115819, rs3740107, rs1565096, rs2291427, rs10571382, rs2242334, rs2229136, rs3802548), and a capillary electrophoresis assay for the ALOX5 Sp1/Egr1 promoter tandem repeat polymorphism. This selection spans the whole ALOX5 gene range and includes all variants with reported functional associations. A gene structure analysis in DNAs from 187 healthy unrelated Caucasians revealed two haploblocks, one in the promoter and one spanning six SNPs from rs3740107G>A in intron 6 to rs2229136A>G in exon 13. The five-repeat genotype was the most frequent Sp1/Egr1 promoter tandem repeat variant (allelic frequency 84%). These assays and analyses provide a solid basis for future assessments of the genetic modulation of leukotriene production.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Prostaglandins, Leukotrienes and Essential Fatty Acids - Volume 80, Issues 5–6, May–June 2009, Pages 255–262
نویسندگان
, , , ,