title: [Diagnostics for epigenetic pathology in hereditary and oncologic diseases].
abstract: The review considers the epigenetic defects and their diagnostics in several hereditary disorders and tumors. Aberrant methylation of the promoter or regulatory region of a gene results in its functional inactivation, which is phenotypically similar to structural deletion. Screening tests were developed for Prader-Willi, Angelman, Wiedemann-Beckwith, and Martin-Bell syndromes and mental retardation FRAXE. The tests are based on allele methylation analysis by methylation-specific or methylation-sensitive PCR. Carcinogenesis-associated genes (RB1, CDKN2A, ARF14, HIC1, CDI, etc.) are often methylated in tumors. Tumors differ in methylation frequencies, allowing differential diagnostics. Aberrant methylation of tumor suppressor genes occurs in early carcinogenesis, and its detection may be employed in presymptomatic diagnostics of tumors.
authors.affiliation: Medical Genetic Research Center, Russian Academy of Medical Sciences, Institute of Molecular Medicine, Sechenov Medical Academy, Ministry of Health of the Russian Federation, Moscow, Russia. zalnem@online.ru
authors.forename: D V
authors.initials: DV
authors.lastname: Zaletaev
authors.forename: M V
authors.initials: MV
authors.lastname: Nemtsova
authors.forename: V V
authors.initials: VV
authors.lastname: Strel'nikov
authors.forename: O V
authors.initials: OV
authors.lastname: Babenko
authors.forename: E V
authors.initials: EV
authors.lastname: Vasil'ev
authors.forename: V V
authors.initials: VV
authors.lastname: Zemliakova
authors.forename: A I
authors.initials: AI
authors.lastname: Zhevlova
authors.forename: O V
authors.initials: OV
authors.lastname: Drozd
mesh_terms: D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D018392:Genomic Imprinting; D006801:Humans; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D018911:Trinucleotide Repeats