title: A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down Syndrome.
abstract: In the present study, we analysed a 31bp variable number of tandem repeats (VNTR) of the cystathionine ß-synthase (CBS) gene in 427 subjects: 127 patients with Down syndrome (DS) and in 60 of their mothers; 172 age-and sex-matched controls and in 68 of their mothers. A significant statistical difference in the distribution of the 21 repeat allele was found comparing mothers of subjects with DS versus mothers of children without DS (χ2= 4.166; P = 0.0413; Table 2). Since CBS 21 repeats allele carriers show a decrease of CBS enzyme activity possibly leading to lower intracellular glutathione concentration, these results could be explained by a higher not disjunction probability of chromosome 21 in oocytes, due to poor antioxidative protection against reactive oxygen species (ROS) toxic activity.
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy micezia&commat;tiscali.it.
authors.forename: M
authors.initials: M
authors.lastname: Salemi
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy.
authors.forename: C
authors.initials: C
authors.lastname: Barone
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy.
authors.forename: C
authors.initials: C
authors.lastname: Romano
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy.
authors.forename: M G
authors.initials: MG
authors.lastname: Salluzzo
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy.
authors.forename: M
authors.initials: M
authors.lastname: Giambirtone
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy.
authors.forename: M C
authors.initials: MC
authors.lastname: Morale
authors.affiliation: University of Catania Section of Endocrinology, Andrology and Internal Medicine, Department of Clinical and Experimental Medicine Catania Italy.
authors.forename: A E
authors.initials: AE
authors.lastname: Calogero
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy.
authors.forename: L
authors.initials: L
authors.lastname: Grillo
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy.
authors.forename: P
authors.initials: P
authors.lastname: Bosco
authors.affiliation: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy.
authors.forename: C
authors.initials: C
authors.lastname: Romano
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018598:Minisatellite Repeats / Q000235:genetics*; D009035:Mothers; D017382:Reactive Oxygen Species / Q000378:metabolism; D012307:Risk Factors
chemical_list: D017382:Reactive Oxygen Species; D003541:Cystathionine beta-Synthase