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Association between rs1805087 Polymorphisms of MTR Gene and Non-syndromic Cleft Lip with or Without Cleft Palate

Author: WangJiangBo
Tutor: NanXinRong
School: Shanxi Medical
Course: Clinical Stomatology
Keywords: 5 - methyltetrahydrofolate - homocysteine ??methyl transferase Gene polymorphism NSCL
CLC: R782.2
Type: Master's thesis
Year: 2011
Downloads: 37
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Abstract


NSCL (non-syndromic cleft lip with or without cleft palate, NSCL / P) is a common congenital malformations of the maxillofacial its incidence vary from country to country, region, race is different, The Asian high incidence in Europe and other ethnic groups. Incidence of approximately 1.30/1000. NSCL / P not only patients with maxillofacial malformations affect the appearance, affect both patient listening, pronunciation, and physical and mental health, to bring a heavy burden to families and society, and seriously affected the improvement of the quality of the population. Of NSCL / P is a much more complex factors in disease, molecular biology research results related to the occurrence of many genes and NSCL / P's. Folic Acid (Folic acid) is a water-soluble B vitamins, glutamic acid, amino benzoic acid and 2 - amino-4 - hydroxy-6 - methyl chatter methotrexate pyridine, after both acid conjugates that chatter . After folic acid absorption in the intestine, via the portal vein into the liver, liver dihydrofolate reductase activity tetrahydrofolate. Tetrahydrofolate involved in the synthesis of purine nucleotides and pyrimidine nucleotides in vivo and conversion. The normal operation of the folic acid metabolic pathway for normal maintaining DNA methylation and DNA de novo synthesis and DNA repair is essential. Control key enzyme of folate metabolism gene mutation, its activity will change significantly and directly affect DNA methylation, leading to chromosomal aberrations. Studies have shown that folic acid supplementation during pregnancy for women can reduce the incidence of cleft lip and palate about 50%. Folate metabolism pathway on the 5 - methyltetrahydrofolate - homocysteine ??methyl transferase (5-methyltetrahydrofolate-homocysteine ??methyltransferase, MTR) gene is located on chromosome 1q43, encodes 1265 amino acids. MTR encoding 5 - methyltetrahydrofolate - homocysteine ??methyl transferase enzyme, is a vitamin B12-dependent methionine synthase, the final step by catalytic methionine biosynthesis into the cells 5 - methyltetrazol hydrogen folic acid methyl catalytic homocysteine ??methylation generate methionine. MTR gene rs1805087 (2756A gt; G) mutations lead to 919 amino acids from aspartic acid to glycine, causing MTR dysfunction, homocysteine ??methylation pathway blocked homocysteine ??levels in the body and methionine cycle abnormalities, the influence of S-adenosyl methionine (S-adenosyl methionine, SAM) level. Reduced SAM levels can lead to abnormal methylation of genomic DNA. 174 cases of NSCL / P patients and 169 cases of normal control group, the detection MTR gene SNPs, rs1805087 genetic polymorphism and NSCL / P correlation. Objective To study the MTR gene SNPs in the rs1805087 genetic polymorphisms and part of the population in Shanxi Province, China NSCL / P. MTR gene rs1805087 China Shanxi Province, 174 cases of NSCL / P patients and 169 normal control group using polymerase chain reaction - restriction fragment length polymorphism method (polymerase chain reaction-restriction fragment length polymephism, PCR-RFLP) genetic polymorphism detection, application Pearsonχ2 test population genotype distribution compliance HWE (Hardy-Weinberg Equilibrium, Hardy - Weinberg equilibrium) SPSS15.0 analysis of whether the patient group and the control group, the genotype and allele frequency distribution There are differences, and the risks associated with value analysis and 95% confidence intervals (95% CI) (OR) estimated. The junction results MTR gene rs1805087 locus genotypic distribution HWE; the MTR gene rs1805087 locus genotype and allele distribution between NSCL / P group and the clinical phenotype with the control group showed no significant difference (P gt ; 0.05). Homozygous mutant genotype GG1 cases found in the case group. Junction conclusion MTR gene SNPs, rs1805087 polymorphism has nothing to do with China Shanxi Province, part of the crowd NSCL / P occurrence in the CLP group, a higher frequency of G allele may this allele in the incidence of the disease has played induction.

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CLC: > Medicine, health > Oral Sciences > Oral and maxillofacial surgery > Oral and maxillofacial plastic surgery
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