title: Candidate gene copy number analysis by PCR and multicapillary electrophoresis.
abstract: Genetic polymorphisms are often considered as risk factors of complex diseases serving as valuable and easily detectable biomarkers, also stable during the whole lifespan. A novel type of genetic polymorphism has been identified just recently, referred to as gene copy number variation (CNV) or copy number polymorphism. CNV of glycogen synthase kinase 3 beta and its adjacent gene, Nr1i2 (pregnane X receptor isoform), has been reported to associate with bipolar depression. In our study we introduced multicapillary electrophoresis for gene copy number analysis as an affordable alternative to real-time PCR quantification with TaqMan gene probes. Our results show the reliability of the developed method based on conventional PCR followed by separation of products by multicapillary electrophoresis with quantitative evaluation. This method can be readily implemented for the analysis of candidate gene CNVs in high throughput clinical laboratories and also in personalized medicine care of depression-related risk factors.
authors.affiliation: Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary. szantai@puskin.sote.hu
authors.forename: Eszter
authors.initials: E
authors.lastname: Szantai
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Elek
authors.forename: András
authors.initials: A
authors.lastname: Guttman
authors.forename: Maria
authors.initials: M
authors.lastname: Sasvari-Szekely
mesh_terms: D019075:Electrophoresis, Capillary / Q000191:economics / Q000379:methods*; D018628:Gene Dosage; D006801:Humans; D016133:Polymerase Chain Reaction / Q000191:economics / Q000379:methods*; D000077297:Pregnane X Receptor; D011987:Receptors, Steroid / Q000032:analysis* / Q000235:genetics*; D015203:Reproducibility of Results; D043262:Ribonuclease P / Q000032:analysis / Q000235:genetics
chemical_list: C000625852:NR1I2 protein, human; D000077297:Pregnane X Receptor; D011987:Receptors, Steroid; D043262:Ribonuclease P