title: Analysis of human CD36 gene sequence alterations in the oxidized low-density lipoprotein-binding region using denaturing high-performance liquid chromatography.
abstract: Denaturing high-performance liquid chromatography (DHPLC) has been employed as a prescreening tool to reduce the amount of DNA sequencing. It could be a simple and cost-effective screening method for mutations and polymorphisms in exons 4, 5, and 6 of the CD36 gene, which encode the protein region responsible for the removal of oxidized low-density lipoprotein. Genomic DNA was isolated from 306 Caucasian infants of Polish origin. Six single-nucleotide substitutions were detected by DHPLC and confirmed by direct sequencing. The A591T, G550A, and C572T alterations have not been described so far. Each of two nonsynonymous substitutions (Asp184Asn, Pro191Leu) was found in one subject (0.2% minor allele frequency). The results suggest that nonsynonymous alterations in the analyzed CD36 region are rare in Caucasians. DHPLC is a specific and cost-effective technique that may prove to be particularly useful for the identification of polymorphisms and mutations in the CD36 gene.
authors: Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland. carmon@sci.pam.szczecin.pl
authors: Monika Ewa
authors: ME
authors: Rać
authors: Janina
authors: J
authors: Suchy
authors: Grzegorz
authors: G
authors: Kurzawski
authors: Krzysztof
authors: K
authors: Safranow
authors: Katarzyna
authors: K
authors: Jakubowska
authors: Maria
authors: M
authors: Olszewska
authors: Barbara
authors: B
authors: Garanty-Bogacka
authors: Michał
authors: M
authors: Rać
authors: Wojciech
authors: W
authors: Poncyljusz
authors: Dariusz
authors: D
authors: Chlubek
mesh_terms: D019943:Amino Acid Substitution; D018955:CD36 Antigens / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D016022:Case-Control Studies; D002851:Chromatography, High Pressure Liquid / Q000191:economics / Q000379:methods; D003362:Cost-Benefit Analysis; D004252:DNA Mutational Analysis / Q000379:methods*; D005787:Gene Frequency; D006801:Humans; D008077:Lipoproteins, LDL / Q000378:metabolism*; D009691:Nucleic Acid Denaturation; D020641:Polymorphism, Single Nucleotide; D054730:Protein Interaction Domains and Motifs / Q000235:genetics*; D012680:Sensitivity and Specificity
chemical_list: D018955:CD36 Antigens; D008077:Lipoproteins, LDL; C099252:oxidized low density lipoprotein