| Recombination hot spots are genome regions is having high recombination rate of than surrounding region. The hot spot has a great influence on the formation of Linkage Disequilibrium(LD) and genome variation,. Using LD making genetic map helps to identify the pathogenic gene. So as to effectively recognize the human disease and their responses to drugs of genetic susceptibility or mutation locus also help in the study of complex diseases associated design with reasonable research strategy.This topic research the occurrence of restructuring events and features on the 31 SNP loci of PPARG gene on Kirghiz control and case group.The association studies were designed based on the unrelated normal control group and the case group at a genetic marker(SNP) locus with different genotypes, by different genotype frequencies can be define whether there is a causal relationship between the genetic markers(SNP) and the susceptibility locus of a diabetes. This thesis includes two parts as follows:1. Study of genetic recombination hot spots and characteristics in Xin jiang Kirghiz peopleIn this study, we selected the PPARG gene from the “Hap Map ENCODE”, which have a lot of hot spot and was studied in the field of diabetes research in recent years in the domestic and international field,in order to comparable the results of this project. Next step, select the appropriate distribution, genetic interval, been validated, MAF≥0.05 SNPs as genetic markers in this study;(1)SNPs genotyping was performed by(MALDI-TOF-MS) platform and Mass ARRAY technology;(2)Hot spot Fisher method is used to calculate the hot spot rate, results showed that there were a lot of differences in the rate of recombination in different people in the chromosome of some regions and the intensity of the same hot spot is different, there are gender differences in the hotspot rate in some regions;(3)The recombinant map was analyzed by haploview software, in the Hap Map schematic we found six recombination hotspots, but there is no recombination rate in our schematic, Only the last five SNPs appeared a restructuring rate;(4)The linkage disequilibrium(LD) was analyzed by HAPMAP software, linkage disequilibrium coefficient D ’is 0.91 of five monomers domain in Kirgiz case group, D ’<1 indicated the history of recombination between the two loci and complete LD was destroyed; The linkage disequilibrium coefficient D ’ is 1 of five monomers domain in Kirgiz and Uygur control group, D ’=1 indicated the two loci were not separated by recombination and the linkage disequilibrium state completely.2. PPARG gene polymorphism and its association with type 2 diabetes in Kirgiz peoplefirstly, The MAF value is used to determine filtered SNPs whether or not accord withHardy-Weinberg equilibrium, results show,the 23 SNPs of among the 30 SNPs have group representation(P>0.05);(1)SPSS t-test used analysis for basic clinical information in control and case group,the results show between the two groups have significant difference respectively in blood pressure(SBP, DBP), waist hip ratio, blood glucose, total cholesterol, low density lipoprotein levels,(P ≤ 0.01);(2) SPSS χ2 test used to analyze the distribution 23 SNP of PPARG genotype and allele frequencies between control and case group, results show, there were significant differences in genotypes and allele frequency of SNPs rs1801282、 rs1899951、rs2881654 、rs2972162 between case and control group,(P≤0.05).(3) SPSS χ2test used to analyze the distribution SNPs genotype and allele frequencies between man and woman with control and case group, results show, there were significant differences in genotypes and allele frequency of SNPs rs6782475 between man and woman control group. rs4684846, rs7615916 between man and woman case group,(P≤0.05).(4) Sitastic analyze the distribution 23 SNPs genotype and allele frequencies in Uygur control group,and compare the genotype and allele frequencies between man and woman group,results show, there were no significant differences in genotypes and allele frequency between Uygur man and woman group.(5) χ2test were used to analyze the single SNP genetic model in case and control group of genotype frequency under different genetic models, the results show statistically significant difference of genotype frequency at rs1801282, rs1899951, rs2881654, rs2921190, rs2959272, rs1875796, rs4135275,rs1151999 between the two groups(P ≤ 0.05).(6) SPSS χ2 test used to analyze the distribution SNPs genotype and allele frequencies between Kirgiz、Uyghur、CHB、CEU、YRI people,results show, there were significant differences in genotypes and allele frequency of SNPs rs1175540、rs17036242、rs2881654、rs2959273、rs2972162 、rs4135275 、rs709151 、rs9310401、 rs1801282 between Kirgiz and Uyghur people,and rs2292101、rs3856806、rs7626560 between with Kirgiz and CHB、CEU、YRI people,(P<0.05).The results of this study can further prove that there were a lot of differences in the rate of recombination in different people in the chromosome of some regions, there may be Potential recombinant hotspot of group specificity or the intensity of the same hot spot is different, there are gender differences in the hotspot rate in some regions. In correlation analysis SNPs of rs1801282,rs1899951,rs2881654 are may be Type 2 diabetes susceptibility loci of Kirgiz people in Xinxiang. |
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