Exploring SOD1 Gene for the Detection of Fetal Down Syndrome
Karuppiah Thilakavathy1, Rosli Rozita, T P Baskaran
1Universiti Putra Malaysia.
Objective:
Fetal cells and circulating cellfree fetal DNA increases in the maternal circulation in women carrying trisomy 21 fetus.
Methods:
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.
Results:
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 non pregnant 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.
Conclusions:
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.
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