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A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down Syndrome
Corresponding Author(s) : M Salemi
micezia@tiscali.it
Cellular and Molecular Biology,
Vol. 61 No. 5: Issue 5
Abstract
In the present study, we analysed a 31bp variable number of tandem repeats (VNTR) of the cystathionine β-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.
Keywords
Cystathionine íŸ-synthase
glutathione
Down syndrome
VNTR
oocytes.
Salemi, M., Barone, C., Romano, C., Salluzzo, M. G., Giambirtone, M., Morale, M. C., Calogero, A. E., Grillo, L., Bosco, P., & Romano, C. (2015). A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down Syndrome. Cellular and Molecular Biology, 61(5), 49–51. Retrieved from http://cellmolbiol.org/index.php/CMB/article/view/705
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