Association of the Folate Metabolism-related Gene Polymorphisms in Spontaneously Aborted Embryos with Abnormal Chromosomal Integrity

摘要

The major reason for early spontaneous abortion is believed to be chromosomal abnormality. But the genetic etiologies are still largely unknown in aborted embryos with abnormal chromosomal integrity. MTHFR and TS proteins are key enzymes that modulateplasma levels of Mate and homocysteine. We studied 25 spontaneously aborted embryos with abnormal chromosomal integrity at <20 weeks of gestational age, 317 adult controls and 100 child controls. Genotypes of MTHFR and TSER genes were analyzed by PCR-RFLP. The statistical analysis was performed by GraphPad Prism 4.0. The AC+CC genotype of MTHFR 1298A>C polymorphism was significantly different between abnormal chromosomal integrity group in spontaneously aborted embryos and child control. The two control groups and case group also exhibited significant differences in the combined MTHFR 1298/TSER genotype. In the present study, we found a relationship between Mate metabolism-related gene polymorphisms and risk of spontaneously aborted embryos with abnormal chromosomal integrity in a Korean population.