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ROLE OF CELL FREE FETAL DNA IN MATERNAL BLOOD - A PROSPECTIVE ROLE OF CΒS AND MTHFR GENE AS ANTENATAL GENETIC MARKER IN PRE-ECLAMPSIA PATIENTS

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Author(s): GARIMA GUPTA, JYOTI GUPTA, SULEKHA PANDEY, PANDEY L.K., SAXENA A.K.

Journal: International Journal of Genetics
ISSN 0975-2862

Volume: 3;
Issue: 2;
Start page: 62;
Date: 2011;
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Keywords: Cell free fetal DNA | Cystathionine β Synthase | Methylene Tetrahydrofolate reductase | Pre eclampsia

ABSTRACT
The pathophysiology of cell - free fetal DNA in maternal blood of pre eclampsia patients remain inexplicablebecause of two main reasons- first presence of very minute quantity of cell free fetal DNA in plasma requiredsophisticated equipments & techniques for its identification and second is the variation in gestational age of the patients.Because of lacking molecular biology and associated “risk factors” involvement of CβS and MTHFR gene mutation is remainunidentified in such patients. Hence, the curiosity has been developing to understand the role of these genes in such casesto explore etiology of increasing risk in patients. In the present study, n=151 case were selected and 80% cases showedSry positive (Y-chromosome specific sequence) used as marker for confirmation of cell free fetal DNA in maternal blood.Genetic study reveals, >20% case showing mutation of CβS gene and MTHFR C677T gene polymorphism showing lack oftransition between C/T alleles. Statistical analysis showing significant difference due to hence, these findings could be usefulto assess as prenatal diagnosis marker in genetics lead to altered single gene folic acid metabolism (homocysteine) andmay increased as an independent “risk factor” in pre eclampsia patients.
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