A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down syndrome

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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.

Original languageEnglish
Pages (from-to)49-51
Number of pages3
JournalCellular and Molecular Biology
Volume61
Issue number5
DOIs
Publication statusPublished - 2015

Keywords

  • Cystathionine ß-synthase
  • Down syndrome
  • Glutathione
  • Oocytes
  • VNTR

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology
  • Biochemistry

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