title: Detection of human genome mutations associated with pregnancy complications using 3-D microarray based on macroporous polymer monoliths.
abstract: Analysis of variations in DNA structure using a low-density microarray technology for routine diagnostic in evidence-based medicine is still relevant. In this work the applicability of 3-D macroporous monolithic methacrylate-based platforms for detection of different pathogenic genomic substitutions was studied. The detection of nucleotide replacements in F5 (Leiden G/A, rs6025), MTHFR (C/T, rs1801133) and ITGB3 (T/C, rs5918), involved in coagulation, and COMT (C/G, rs4818), TPH2 (T/A, rs11178997), PON1 (T/A rs854560), AGTR2 (C/A, rs11091046) and SERPINE1 (5G/4G, rs1799889), associated with pregnancy complications, was performed. The effect of such parameters as amount and type of oligonucleotide probe, amount of PCR product on signal-to-noise ratio, as well as mismatch discrimination was analyzed. Sensitivity and specificity of mutation detections were coincided and equal to 98.6%. The analysis of SERPINE1 and MTHFR genotypes by both NGS and developed microarray was performed and compared.
authors.affiliation: Faculty of Biology, Saint-Petersburg State University, St. Petersburg, Russia; D.O. Ott Research Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences, St. Petersburg, Russia.
authors.forename: A S
authors.initials: AS
authors.lastname: Glotov
authors.affiliation: Institute of Chemistry, Saint-Petersburg State University, St. Petersburg, Russia; Institute of Macromolecular Compound, Russian Academy of Sciences, St. Petersburg, Russia.
authors.forename: E S
authors.initials: ES
authors.lastname: Sinitsyna
authors.affiliation: D.O. Ott Research Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences, St. Petersburg, Russia.
authors.forename: M M
authors.initials: MM
authors.lastname: Danilova
authors.affiliation: D.O. Ott Research Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences, St. Petersburg, Russia.
authors.forename: E S
authors.initials: ES
authors.lastname: Vashukova
authors.affiliation: Institute for Technical Chemistry, Leibniz University, Hannover, Germany.
authors.forename: J G
authors.initials: JG
authors.lastname: Walter
authors.affiliation: Institute for Technical Chemistry, Leibniz University, Hannover, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Stahl
authors.affiliation: Faculty of Biology, Saint-Petersburg State University, St. Petersburg, Russia; D.O. Ott Research Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences, St. Petersburg, Russia.
authors.forename: V S
authors.initials: VS
authors.lastname: Baranov
authors.affiliation: Institute of Chemistry, Saint-Petersburg State University, St. Petersburg, Russia; Institute of Macromolecular Compound, Russian Academy of Sciences, St. Petersburg, Russia.
authors.forename: E G
authors.initials: EG
authors.lastname: Vlakh
authors.affiliation: Institute of Chemistry, Saint-Petersburg State University, St. Petersburg, Russia; Institute of Macromolecular Compound, Russian Academy of Sciences, St. Petersburg, Russia. Electronic address: tennikova@mail.ru.
authors.forename: T B
authors.initials: TB
authors.lastname: Tennikova
mesh_terms: D043303:Aryldialkylphosphatase / Q000235:genetics; D001483:Base Sequence; D002394:Catechol O-Methyltransferase / Q000235:genetics; D005026:Ethylene Glycols; D005260:Female; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D039661:Integrin beta3 / Q000235:genetics; D008689:Methacrylates / Q000737:chemistry*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics; D016062:Porosity; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics*; D014365:Tryptophan Hydroxylase / Q000235:genetics
chemical_list: D005026:Ethylene Glycols; C061248:ITGB3 protein, human; D039661:Integrin beta3; D008689:Methacrylates; D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; C526534:poly(glycidyl methacrylate-co-ethylene glycol dimethacrylate); C494784:TPH2 protein, human; D014365:Tryptophan Hydroxylase; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C588010:COMT protein, human; D002394:Catechol O-Methyltransferase; D043303:Aryldialkylphosphatase; C468406:PON1 protein, human
keywords: DNA microarrays; Macroporous polymer monoliths; Mutations; Pregnancy complications; Single nucleotide polymorphism (SNP)