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• W8713356 abstract "Down syndrome or Trisomy 21, is the most commonly occurring genetic disorder thatstems from the failure of ·chromosome 21 to segregate normally during meiosis,resulting in an individual carrying an extra copy of chromosome 21. The main aims ofthis study were to develop a relatively non-invasive prenatal DNA screening methodusing maternal blood and to detect mutations on cystathionine J3-synthase (CBS) gene, afolate pathway gene located on chromosome 21. As an initial step, the presence offoetal cells and DNA in the maternal blood was firstly determined by foetalhaemoglobin (HbF) staining and polymerase chain reaction (PeR). It was found thatthe ratio ofthe nucleated foetal cell to maternal cell increased from 2 in 106 to 3 in 106and 5 in 106 at the first, second and third trimester, respectively. By using Ychromosome specific primers, DNA from male foetuses could be detected as early as 6weeks of gestation in 200 Jil maternal blood obtained from fingertip. This is in linewith the current technology in non-invasive screening methods of foetal aneuploidieswhich is focused on detecting Y chromosomal sequences which is impossible to be used for female foetus pregnancies. Therefore, the superoxide dismutase 1 (SOD'!) genesequence, which is located on the Down Syndrome Critical Region, was used toovercome this situation by using real-time quantitative PCR The level of SOD1sequences in maternal blood was found to be significantly elevated in the third trimesternormal pregnancies (mean = 11728 copies/Ill) when compared to the second trimester(mean = 5705.6 copies/Ill), p<0.OO5 and non-pregnant normal women (mean = 3580.2copies/Ill), p<O.OOOl. Down syndrome pregnancies have the greatest elevationcompared to all the three trimesters of normal singleton pregnancies and twinpregnancies,p<0.05. The traditional approach ofprenatal chromosomal diagnosis usingamniotic fluid was found to be cumbersome and time-consuming compared to thenewly developed method. The mutation detection on CBS gene was carried out usingDNA sequencer and denaturing high performance liquid chromatography (DHPLC).This study revealed that the Down syndrome patients have four mutations, which are inintron 1 (A9231C), exon 10 (C20628T) and exon 17 (T277%C and C27817T). TheDown syndrome children were found to have the same genotype as their mothers. Thenumber ofmothers and children having the substitutions in the CBS gene was twice thenumber ofmothers and children with normal genotype, suggesting that the mothers whohave these substitutions are at higher risk of having a child with Down syndrome. Inconclusion, non-invasive prenatal diagnosis at first trimester using Y chromosomalsequence IS feasible for diagnosis of foetal-derived paternally-inheritedpolymorphism/mutations or genes. Quantitative analysis using gene associated with adisorder has a potentially significant advantage over the invasive techniques currentlyused widely for prenatal diagnosis. Finally, the discovery of the mutations in the CBS gene of Down syndrome patients and mothers will help contribute to new knowledgeand the future studies on the folate pathway genes mutation and occurrence of Downsyndrome. It may also suggest an opportunity to improve public health strategies forthe primary prevention ofDown syndrome" @default.
• W8713356 created "2016-06-24" @default.
• W8713356 creator A5002560374 @default.
• W8713356 date "2004-02-01" @default.
• W8713356 modified "2023-09-24" @default.
• W8713356 title "Down Syndrome: Development Of A Non-Invasive Prenatal Dna Screening Test Using Superoxide Dismutase 1 Gene In Maternal Blood And Detection Of Cystathionine P-Synthase Gene Mutations" @default.
• W8713356 hasPublicationYear "2004" @default.
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