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Investigation of the Relation of Shandong NSCL/P and MTHFR Gene C677T Mutation、BMP4 Gene T538C Mutation

Author: LuDan
Tutor: WangJianHua
School: Shandong University
Course: Clinical Stomatology
Keywords: NSCL Methylenetetrahydrofolate reductase C677T polymorphism Bone morphogenetic protein 4 gene T538C polymorphism Polymerase chain reaction - restriction fragment length polymorphism
CLC: R782.2
Type: Master's thesis
Year: 2011
Downloads: 60
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Abstract


First, the purpose and significance of Objective 1.1 Research methylenetetrahydrofolate reductase (MTHFR) (?) Gene C677T polymorphism and non-syndromic cleft lip and palate (NSCL / P) in Shandong Province correlation. 1.2 bone morphogenetic protein 4 (BMP4) gene the T538C polymorphism associated with non-syndromic cleft lip and palate (NSCL / P) in Shandong Province. 1.3 methylenetetrahydrofolate reductase (MTHFR) gene C677T and bone morphogenetic protein 4 (BMP4) gene T538C polymorphism in the pathogenesis of NSCL Shandong Province in the presence of correlation. Significance 2.1 of methylenetetrahydrofolate reductase (MTHFR) gene C677T and bone morphogenetic protein 4 (BMP4) gene T538C polymorphism and NSCL / P from the level of molecular biology research, explore NSCL / P occurred mechanism. 2.2 identify susceptibility genes NSCL, NSCL / P birth risk assessment. Provide the basis for further clinical prevention and monitoring of cleft lip and palate defects in children born conducive to China's family planning and prenatal and postnatal care. Second, the method of the study in October 2008 in Shandong Province, Shandong University School of Stomatology Key Laboratory of Oral Biomedical, Shandong Province Key Laboratory of eugenics. Of August 2005 to October 2008, was taken to surgery, Qilu Hospital of Shandong University, Oral and Maxillofacial Surgery from Shandong Province NSCL / P 66 group of patients families and health check for the same period a normal family 50 groups were detected. 2. Acquisition required the peripheral blood of the patient's family members and family members of the control group. DNA was extracted using a conventional phenol / chloroform extraction, concentration by UV spectrophotometer. DNA thermal cycler for PCR amplification. (Known primers, PCR reaction system) using polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method detects genotypes. Digestion products separated by electrophoresis and silver staining observed results. 3 Statistics genotype and allele in the patient and control groups of individuals and family members by the Hardy-Weinberg equilibrium, x2 test using SAS statistical software to calculate the difference between the case group and the control group genotype and allele frequencies and structure than the differences, the risks associated with value analysis and 95% confidence intervals were calculated, and the correlation detection. Third, the results of MTHFR gene MTHFR C677T gene analysis calculated the offspring of parents carrying the T allele of the offspring of parents suffering from the risk of non-syndromic cleft lip and palate is not carrying the T allele 2.278 The times; TT homozygote suffering NSCL the risk of non-TT homozygous 4.690; mother and child are TT homozygote offspring suffering the NSCL risk non-mother and child are TT pure zygote progeny 3.296 times. 2.BMP4 the genes BMP4 T538C gene analysis calculated 1.914 times the C allele of offspring of parents suffering from the risk of non-syndromic cleft lip and palate is not carrying the C allele offspring of parents; CC the risk of non-CC homozygote risk of non-syndromic cleft lip and palate homozygous 3.375 times. MTHFR gene C677T and BMP4 gene T538C polymorphism of the combined effects of the NSCL calculated by non-conditional logistic regression model the MTHFR (CC) genotype genotype and BMP4 (TT), as a reference, statistics The results show that, P gt; 0.05, results not statistically significant. Conclusion. The Shandong region NSCL / P and MTHFR gene C677T polymorphism, there is a link with the parental genotypes. T gene was statistically significant, the study of the mother and son combination, transmission from parents to offspring T allele offspring prevalence. Shandong Province NSCL / P and BMP4 gene T538C polymorphism related to that there is a link with the parental genotypes. C gene was statistically significant in the study of mother-to-child combinations, transmission from parents to offspring C allele offspring prevalence. 3.MTHFR gene C677T and BMP4 gene T538C in the Shandong region NSCL pathogenic, found no significant correlation.

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