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PubMed | University of Catania, IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy micezia&commat and IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy
Type: Journal Article | Journal: Cellular and molecular biology (Noisy-le-Grand, France) | Year: 2015

In the present study, we analysed a 31bp variable number of tandem repeats (VNTR) of the cystathionine -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 (2= 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.

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