Salemi M, Barone C, Romano C, Salluzzo M G, Giambirtone M, Morale M C, Calogero A E, Grillo L, Bosco P, Romano C
IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy micezia@tiscali.it.
IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging Troina Italy.
Cell Mol Biol (Noisy-le-grand). 2015 Oct 16;61(5):49-51.
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.
在本研究中，我们分析了427名受试者胱硫醚β-合酶（CBS）基因的一段31bp可变数目串联重复序列（VNTR）：127名唐氏综合征（DS）患者及其60名母亲；172名年龄和性别匹配的对照者及其68名母亲。比较DS患者母亲与非DS儿童母亲，发现21重复等位基因的分布存在显著统计学差异（χ2 = 4.166；P = 0.0413；表2）。由于CBS 21重复等位基因携带者的CBS酶活性降低，可能导致细胞内谷胱甘肽浓度降低，这些结果可以解释为卵母细胞中21号染色体不分离概率较高，这是由于对抗活性氧（ROS）毒性活性的抗氧化保护不足所致。
