Dissertation > Medicine, health > Neurology and psychiatry > Neurology > Pediatric neurology

Homocysteine ​​and its metabolic enzyme gene polymorphism and the relationship between neural tube defects

Author PeiLiHua
Tutor WangXin
School Central South University
Course Obstetrics and Gynaecology
Keywords Neural tube defects Methylenetetrahydrofolate reductase Methionine synthase Cystathionine β synthase Gene polymorphism
CLC R748
Type Master's thesis
Year 2011
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[ Objective ] investigate after folic acid neural tube defects even after birth (Neural Tube Defects, NTDs) mothers of children with plasma homocysteine ​​(homocysteine, Hey) concentration and the MTHFR C677T, MS A2756G and CBS 844ins68 gene polymorphism and NTDs occurred correlation study NTDs risk factors . [ Method ] ① select around 58 cases have been taking folic acid during pregnancy , but still given birth mothers of children with NTDs ( including 52 cases of children with NTDs birth once , six cases of children with NTDs birth 2 times ) for the study group ; 57 cases Wai had taken over folic acid during pregnancy , normal reproductive history of the mother as the control group . Amplified by the PCR method ② MTHFR C677T, MS A2756G, CBS 844ins68 the DNA fragment either directly or by restriction endonuclease digestion by agarose gel electrophoresis to determine the trailing genotype Automatic biochemical analyzer using all subjects plasma Hcy concentrations . [ Results] ① Compared with control group , the study group was significantly higher plasma Hcy concentrations , and the difference was statistically significant (P lt; 0.01). ② study group and the control group group group comparisons , all three MTHFR C677T genotype in subjects with wild-type plasma Hcy concentrations lowest heterozygous mutant followed subjects homozygous mutant plasma Hcy concentration in the highest, and difference was statistically significant (P lt; 0.01); while CBS 844ins68, MS A2756G mutation Although plasma Hcy concentration can cause , but the difference was not statistically significant differences between genotypes (P gt; 0.05). ③ study group homozygous MTHFR C677T mutation ratio of 15 /58 ( 25.8% ) in the control group homozygous MTHFR C677T mutation ratio of 4 / 57 ( 7.0% ) , the difference between the two groups was statistically significant (P lt; 0.01), mutant allele frequency comparison , the study group was 28.4% ( 33/ 116 ) , the control group was 16.7% ( 19 / 114 ) , a statistically significant difference between the two groups (P lt; 0.05); CBS 844ins68, MSA2756G in carrying susceptible genotype and allele frequencies than on the study group and the control group showed no significant difference between . [ Conclusion ] ① plasma Hcy concentration is a risk factor for the onset of NTDs ; ② NTDs occurrence and MTHFR C677T mutation, as well as CBS 844ins68 with MS A2756G mutation may be no direct relationship ;

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