title: [Methylation status of the FMR1 gene promotor in patients with Martin-Bell syndrome from Ukraine].
abstract: The methylation status of the FMR1 gene promotor was studied in 8 patients with detected CGG-expansion or negative PCR analysis (CGG-expansion or deletion). In all these causes the methylation status was detected. The modified PCR protocol of Hin6.I-restricted DNA has been proposed for performing diagnosis, postnatal and prenatal diagnostics and for screening patients with mental retardation and newborn boys.
authors.forename: N V
authors.initials: NV
authors.lastname: Grishchenko
authors.forename: S G
authors.initials: SG
authors.lastname: Maliarchuk
authors.forename: A Iu
authors.initials: AIu
authors.lastname: Ekshiian
authors.forename: A M
authors.initials: AM
authors.lastname: Bychkova
authors.forename: L A
authors.initials: LA
authors.lastname: Livshits
mesh_terms: D001483:Base Sequence; D019175:DNA Methylation; D017931:DNA Primers; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011401:Promoter Regions, Genetic; D016601:RNA-Binding Proteins; D014455:Ukraine
chemical_list: D017931:DNA Primers; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human