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An Association Study Between MT1B,MT2A Gene Single Nucleotide Polymorphism And Type 2 Diabetes Mollitus

Posted on:2007-04-30Degree:MasterType:Thesis
Country:ChinaCandidate:D Y LiFull Text:PDF
GTID:2144360182996772Subject:Nutrition and Food Hygiene
Abstract/Summary:PDF Full Text Request
With the improvement of the living standard, the accelerating of theaging process, the better control of the infectious diseases, the disease anddeath notations have been greatly changed in China. Chronic diseasescharacterized by tumor, cerebrovascular and cardiovascular diseases,diabetes etc. have become a main problem threatening the public health.The HGP has been almost completed, the microstructure and thefunction of the human genome have been revealed by the research on HGPdraft and functional genes. Human genome, being composed of 3×109basepairs, is a very resistant architecture which ensures the coincidence andstability of human as a species. The DNA has some variation because ofthe evolution, this variation may be good for the species, may be bad.Someof variation was conserved and cause the polymorphism in different ethnicsand individuals. A new stage characterized by the research on theinformation in human genome has being reached accompanying theaccumulation of these data. The polymorphism in human genome is the baseand determining factor of the different susceptibility to some specialdiseases.The genetic polymorphism of the human genome are more frequentlyhappened on the repeated sequence especially on the short tandem repeatsequence such as small satellite DNA and microsatellite DNA.. And thesepolymorphisms mainly based on the variation of the copy number. There isalso a kind of more wildly polymorphism in the singlenucleotide sequence.The single-nucleotide polymorphism (SNP) is the difference of singlenucleotide in DNA sequence. SNP is more ordinary in human genome.There are one SNP on the average 1000 bp if we compared any two allelechromosome DNA sequence. The polymorphism in human genome mayeffect the gene products, and leads to difference of gene products in deferentindividuals. If these difference correlated to the presence of specialpathologic change, it will affect on the occurrence and development ofhuman disease. On the other hand, the allele gene with specialpolymorphism may present in some patients with special disease, so thesekind of polymorphism and disease genetic marker will help to identifysusceptible population and individuals and have a important value to preventdiagnose and therapy of some special disease at early stage.Basing on the associated analysis of the SNP, it is found that thehereditary mutation of some complex disease, such as cardiopathy, diabetes,psychosis etc. is the main challenge our scientists facing to. Although thesekinds of diseases spread through the genealogy, they are usually atavistic,and they are the result of the synthetical functions which is performed by theheredity and the environment corporately. As a consequence, this kind ofphenomenon results in the restriction of the application of the chaingenealogical analysis which has been successfully applied in the Mendiliandisease. Presently, it is found that making use of marking the DNA of theassociated morbid genes is the best way to effect on the polygenetic disease.Comparing the frequency of the marked allele in the pathogenetic groupwith those in the contra posed group statistically, it is found that the analysisof SNP is an effective mark, so it is seen that the application of the SNP inselection of the susceptible genes in type II diabetes has a promisingforeground. Until now quite amounts SPN of the T2DM and the SNP relatedto their syndromes have been discovered, at the same time some SNP hasbeen foreclosed.Diabetes is the most serious disease in 21st century which does harmto people's health. NIDDM is a kind of chronic disordering metabolizeddisease which accounts for 90%-95% in the total number of the diabetics. Itis a kind of polygenetic transmissible disease with strong heterogeneousquality, and it is affected a lot by the environment. The pathogenesis ofdiabetes has not been clearly uncovered, but it is found that it is closelyrelated to heredity and obesity. Research has confirmed that whether thegenes of the metallothinoein convey naturally is closely related to thecorpulent factor. And the adiposity is one of the most critical factors causingthe diabetes. Moreover the chain-research has found that RRAD exists in thechromosome 16q22 area, and this gene is located within 10cm in this area.That is to say there are 17 family members of MT existing in the 16q13 area.Due to some multi-formed chaining unbalancely and being relating to theeasily infected morbid genes, some mutations emerge on some differentsuffers, consequently it becomes the sign of that hereditary disease. Therebystudying on the multi-configurations of MT in that very area will redound tothe confirming of the easily infected group, and furthermore the disclosureof the relation between the multi-configurations of MT and the pathogenesisof diabetes may help to orientate the easily infected genes of diabetes.In this experiment vein of 151 diabetics and 258 healthy people hasbeen collected and compared, and their DNA has been distilled. Thisexperiment adopted the PCR technology and the RFLP technique, it took theDL2000DNAMarker as the molecular weight standard sample, through theagarose gel electrophoresis procedure and the systematic analysis ofgelation imaging steps, the genotype is affirmed according to atlas. Thetesting for the multi-formed of the single-necleotide of rs12934569 Thisexperiment uses the spss software to test the muliti-formed of single-necleotide of the MT1B gene in the MT genetic family which respectivelybelongs to the case group and the normal group.The result the experiment indicates that the distribution of genotypefrequencies of rs12934569 and rs10636 was not deviated between thediabetic and control group from the Hardy-Weinbergequilibrium(P>0.05);There was no remarkable difference with thedistribution of alleles(P>0.05)and genotypes ( P>0.05) frequencies ofMT1B , MT2A between the diabetic and control group.ConclusionMT1Brs12934569 and MT2Ars10636 gene may not be associated withT2DM.This research intends to study on the genic pathogenesis of diabetes,and try to figure out the relationship between the multi-formed mutation ofthe MT genes and the diabetes mellitus accordingly. Although the expectingelectropositive result has not been educed, and samples for this experimentstill need to be expanded;this experiment is designed reasonablely and isoperated normatively. Besides that the advanced equipment applying for thisexperiment, the authentic data of this experiment and the accurate statisticsresult in the scientific and reliable conclusion. The non-insulin-dependentdiabetes come on and evolutes complicatedly, the pathogenesis of NIDDMis probably affected or induced by some kind of polygenic disease, thedeficiency of one gene can not induce the diabetes. And, withal, thedistributing frequency of the MT genes differs individually, herdingly, andphyletically, so does the distributing frequency of the metagenes. Althoughthis research indicates that the pathogenesis of diabetes is irrelevant to themulti-formed genes of the MT1Brs12934569, it does not definitely confirmthe result. For the existence of the metagene of RRAD in the 16q22chromosome area and the existence of 17 metagenes in MT family sides tothe gene within 10cm. this research only studies on one of the twometagenes in the MT family, the relationship between the other SNPS andthe Type II diabetes is being exploring in order to confirm the connectionbetween MT genes and Type II diabetes.The complex connection between the easily infected quality of Type IIdiabetes and the multi-formed genes of MT is still understudying. And thatresearch will provide more possibilities to uncover the pathogenesis of TypeII diabetes and instruct the exploring procedure scientifically.
Keywords/Search Tags:metallothionein(MT), MT1B rs12934569, MT2A rs10636, non-insulin-dependent diabete(sNIDDM), single-necleotide polymorphism(SNP)
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