Clinical study regarding the link between cystathionine β-synthase 844ins68 polymorphism and maternal risk for Down syndrome

R. Cretu, D. Neagos, V. E. Radoi, R. C. Sfetea, C. L. Bohiltea

Abstract: Folic acid is commonly used for the primary prevention of severe congenital malformations and Down syndrome (DS). The objective of this study was to evaluate the frequency of 844ins68 polymorphism of the cystathione beta-synthase (CBS) gene and to verify if the occurrence of this polymorphism is associated with trisomy 21. In the present study we analyzed 72 mothers (ages between 20 and 42 years old) in which those children presented or not DS. Mothers of children with DS (26 cases) were included as study group and those with children without DS and who had never suffered a miscarriage were enrolled as control group (46 cases). Genomic deoxyribonucleic acid (DNA) was isolated from whole peripheral blood collected on ethylenediaminetetraacetic acid, using peqGOLD blood DNA mini kit. The common CBS polymorphism that causes an insertion of 68 bp at the 844 position was further identified. Results. The frequencies of CBS 844ins68 genotypes (ins-/ins-, ins+/ins-) among case mothers were 84.6 and 15.4%, respectively. The corresponding frequencies among controls were 91.3 and 8.7%, respectively. In our study, we did not find any significant differences in genotype frequencies between the two analyzed groups.
DOI:10.18643/gieu.2013.15

Keywords: cystathionine beta-synthase, folate, Down syndrome, polymorphism