Association Between Polymorphisms Of MTHFR C677T CBS T833C,CBS G919A Gene And NTDs

ObjectiveTo determine whether the mutation C677T of Methyleneterah-ydrofolate reductase (MTHFR) gene or T833C G919A of (cystathionine-β- synthase) CBS are associated with NTDs or not.Methods(1) Among 20 mothers with NTDs children and 35 mothers with normal children, we taked peripheral blood 3 ml, with EDTA as an anticoagulant. Human DNA was picked up by peripheral blood;(2) The genetic polymorphism of MTHFRC677T transition was identified with Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) , analysed the genotype and the alleles frequency of MTHFR;(3) The genetic polymorphisms of CBS T833C,CBS G919A transition was identified with amplification refractory mutation system (ARMS), analysed the genotype and the alleles frequency of CBS T833C,CBSG919A;( 4 ) Analysis each of the three gene mutations, conduct a comprehensive analysis on two or three gene mutation exists at the same time, pregnant women of reproductive NTDs in infants odds risk.Result(1) The MTHFR C677T genotype and allele frequencies in cases and in controls is significantly different, there are statistical significance (P<0.01) .The women with TT(OR=9.0) and TC(OR=10.0) can increase the danger of NTDs than the women with CC.(2) The CBS T833C allele frequencies in cases and in controls is significantly different,there are statistical significance (P<0.05) .The women with C allele have a greater risk of with a child with NTDs of 3.321times than the women with T.(3) The CBS G919A genotype and allele frequencies in cases and in controls is not significantly different (P>0.05 ) .(4) When MTHFR C677T and CBS T833C gene mutation exist at the same time, the incidence of NTDs in cases was significantly higher than the controls,and there was a significant difference (P<0.05) ;When MTHFR C677T and CBS G919A or CBS T833C and CBS G919A gene mutation exist at the same time,the incidence of NTDs in cases was higher than the controls,but there was not a significant difference (P> 0.05) ; the three gene mutations of MTHFR C677T and CBS T833C and G919A exist at the same time, the incidence of NTDs in cases was higher than the controls, but there was not a significant difference (P>0.05 ) . Conclusion(1) The MTHFR C677T is associated with the development of NTDs.(2) CBS T833C,CBS G919A is not primarily associated with the development of neural tube defects.(3) The gene mutations of the mother MTHFR C677T and CBS T833C is related to NTDs. It is not related to NTDs when MTHFR C677T and CBS G919A or CBS T833C and CBS G919A gene mutation exists at the same time. The three gene mutations of MTHFR C677T and CBS T833C > G919A exist at the same time is not related to NTDs.