Relationship Of Plasma Homocysteine And The Gene Polymorphism Of Metabolic Enzymes With Neural Tube Defects

Objective To investigate the relationship of plasma homocysteine (Hey), the gene polymorphism of N5, N10-methylentetrahydrofolate reductase (MTHFR),methionine synthase (MS) and Cystathionine-B-synthase (CBS) with Neural Tube Defects (NTDs), identify NTDs malformation risk factors to provide the scientific basis for prevention and control of NTDs.Methods(1) 58 cases mothers have been selected in periconceptional folic acid, but still had NTDs birth of children (including 52 cases of children with NTDs birth once,6 patients had 2 birth children with NTDs) as the study group; 57 cases of pregnancy have been around who have taken folic acid, the normal reproductive history of mothers as the control group.(2) Amplifing DNA fragments of MTHFRC677T,MSA2756G and CBS844ins68 with PCR technology, agarosegel electrophoresis determine the genotype after digesting by directly or via restrictive digestive enzymes.The plasma Hcy levels of all subjects were measured using automatic biochemistry analyzerResults(1) Compared with control group,the plasma Hcy levels in experimental group has significantly higher and significantly defferent(P<0.01)(2) Comparison in control or experimental group, the plasma Hey levels of MTHFRC677T gene is increasing gradually from wild type,heterozygous mutational type to homazygous mutational type. and has significantly defferent (P<0.01); While gene mutations of MSA2756G,CBS844ins68 also can cause plasma Hcy levels increasing, but the difference has not statistically significant (P>0.05). (3) In experimental group,the percentage of mutational homozygote in MTHFRC677T gene was 15/58 (25.8%),and it was 4/57 (7.0%) in control group,also the difference in two group has statistically significant (P<0.01).There are significant differences of the allele frequencies of MTHFRC677T between experimental group(33/116,28.4%) and control group(19/114,16.7%) (P<0.05), while MSA2756G and CBS844ins68 have no significant differences of the allele frequenciesConclusion(1) The high level of HCY is probably a risky factor of NTDs.(2) NTDs might be relevant to mutation of MTHFRC677T, and has not directly relationship with mutation of MSA2756G and CBS844ins68...