Exploring SOD1 Gene for the Detection of Fetal Down Syndrome

Karuppiah, Thilakavathy and Rozita, Rosli and Baskaran, T.P. (2008) Exploring SOD1 Gene for the Detection of Fetal Down Syndrome. Journal of prenatal medicine, 2 (3). pp. 36-39. ISSN 1971-3290

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It has been shown that fetal cells and circulating cellfree fetal DNA increases in the maternal circulation in women carrying trisomy 21 fetus. The current technology in non-invasive screening methods of fetal aneuploidies is focused on detecting Y-chromosomal sequences which is not practical to be used for pregnancies involving female fetuses. Hence, it is vital to develop an assay that is universal for both male and female fetus pregnancies. We attempted the use of superoxide dismutase (SOD-1) gene, which is located at the Down Syndrome Critical Region, to overcome this situation for the prenatal screening of Down syndrome. The prospective of the gene using real-time quantitative polymerase chain reaction was explored. Our results show that the level of SOD-1 sequences is significantly elevated in the third trimester normal pregnancies (mean = 11728 copies/μl) when compared to the second trimester (mean = 5705.6 copies/μl), p<0.005 and nonpregnant normal women (mean = 3580.2 copies/μl), p<0.0001. Down syndrome pregnancies have the greatest elevation compared to all the three trimesters of normal singleton pregnancies and twin pregnancies, p<0.05. These data indicate that a quantitative analysis using a gene associated with a disorder could be used in screening for the prenatal diagnosis of fetal aneuploidies regardless of the sex of the fetus.

Item Type: Article
Uncontrolled Keywords: Fetal Down syndrome, maternal blood, real-time quantitative pcr, SOD1 gene
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 618 Altri rami della medicina; Ginecologia e ostetricia, Pediatria, Geriatria > 618.3 Malattie e complicazioni della gravidanza
Depositing User: Gianni Aiello
Date Deposited: 11 Feb 2014 11:03
Last Modified: 10 Apr 2014 08:40
URI: http://eprints.bice.rm.cnr.it/id/eprint/5724

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