| Objective and significance:1. Objective1.1 To investigation on the relation of Shandong Province (NSCL/P)and MTHFR gene C677T Mutation.1.2 To investigation on the relation of Shandong Province (NSCL/P) and BMP4 gene T538C Mutation.1.3 To Investigation of MTHFR gene C677T,BMP4 gene T538C at the Shandong region of non-syndromic cleft lip and palate in the existence of pathogenic relevance.2. significance2.1 From the molecular biology of methylenetetrahydrofolate reductase gene and bone morphogenetic protein 4 gene polymorphism with NSCL/P relationship and interaction, study the mechanisms of NSCL/P2.2 MTHFR gene C677T and BMP4 gene T538C will serve as a marker of genetic susceptibility to cleft lip and palate, as clinically effective detection and prevention of cleft lip and palate birth defects in children provide an objective basis. It is importanted to reduce the risk of cleft lip and palate, effect prenatal screening, reduce the incidence of cleft lip and palate patients, also it is important at the work of family planning and prenatal and postnatal care.Methods: 1. It was studied on October 2008 in Shandong Province Key Laboratory of prenatal and postnatal care and Shandong Provincial Key Laboratory of Oral Biomedicine.66 NSCL/P patients family who were surgical treatments in Qilu Hospital of Shandong University on August 2005 to October 2008 and healthy people of normal children home 50 family members of genotype analysis.2. According to requirements of the core collection of family members and members of the control group, peripheral blood. Using conventional phenol /chloroform extraction method extracted DNA, the concentration by UV spectrophotometer. DNA thermal cycler for PCR amplification, (known primers, PCR reaction) using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method for detection of genotype. Digestion products were separated by electrophoresis and silver staining was observed after the results.3. Statistics of individual patients and control groups and family members of the genotype and allele detection by Hardy-Weinberg equilibrium, using SAS statistical software calculatedχ2 test case group and control group differences in genotype and allele frequencies and composition the differences, the risks associated with value analysis and 95% confidence interval calculation.Results:1.MTHFR GeneCarrying T allele calculated offspring of parents suffering from non-syndromic cleft lip and palate was not carrying the risk T allele of 2.278 times the offspring of parents; TT homozygote risk of non-syndromic lip The risk of cleft palate non-TT homozygotes 4.690 times; mother were TT homozygote offspring risk of non-syndromic cleft lip and palate risk of non-TThomozygotes of 3.296 times.2.BMP4 Gene Carrying C allele calculated offspring of parents suffering from non-syndromic cleft lip and palate was not carrying the risk allele C of 1.914 times the offspring of parents; CC homozygote risk of non-syndromic cleft lip and palate Risk of non-CC homozygotes 3.375 times.3.MTHFR gene C677T and the BMP4 gene T538C polymorphism in the joint between the role of non-syndromic cleft lip and palate.By the non-conditional Logistic regression model to MTHFR (CC) and BMP4 (TT) genotype as a reference, Results show all P>0.05, so no statistically significant results.Conclusion:1. Shandong NSCL/P and the MTHFR gene C677T polymorphism associated with the genotype of the parents there is a link; T gene in the study of mother-child combination was statistically significant transmission from parents to offspring of the T allele of the offspring Prevalence has an important role.2.Shandong NSCL/P and BMP4 gene T538C polymorphism correlated with genotypes of the parents there is a link;C gene in the study of mother-child combination was statistically significant transmission from parents to offspring of the C allele of the offspring Prevalence has an important role.3. MTHFR gene C677T and BMP4 gene T538C are non-syndromic cleft lip and palate in Shandong genetic risks. |
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