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The Correlation between the Polymorphism of 6 miniSTR and Acute Cerebral Infarction

Author: LiZhiJun
Tutor: XuFei
School: Dalian Medical University
Course: Human Anatomy and Embryology
Keywords: Acute cerebral infarction MiniSTR Gene polymorphisim Correlation
CLC: R743.33
Type: Master's thesis
Year: 2008
Downloads: 31
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Abstract


Objective: Short tandem repeats(STR) are the second generation of human genetic markers containing 2 to 6 base pairs repeats. The repeat number is from several to decades . MiniSTR is a kind of new technology for STR typing. It redesigned primer sequences in order to make it closer to the core repeats region, these new markers produce short PCR products at the range of 50 ~ 150 base pairs (bp).Due to the small size of miniSTR products, it can be more effective to get the right gene typing from degraded materials. Recently, many of researches proved that genetic and immune factors played an important role in the occurance and development of this disease. More scholars began to pay attention to the genetic factors in stroke, and gradurally noticed that the differences of individual sensitivity is importance in the occurance of the disease. Some scholar reported that the polymorphism of some STR loci were associated with the cerebral infarction. We investigated 6 miniSTR loci D10S1248, D14S1434, D22S1045, D1S1677, D2S441, and D4S2364, and for the first time to apply the 6 miniSTR loci to study the association between acute cerebral infarction and the miniSTR. Our study helped to find the sensitive gene and protective gene of acute cerebral infarction, and to explore a new pathogenesis of acute cerebral infarction.Methods: 40 acute cerebral infarction patients with no sibship were selected as the case group who were diagnosed according to the fourth national cerebrovascular diagnose standard, 133 health blood donation volunteers without genetic disease history and sibship aged 18-55 were selected as negative cotrol. 2ml peripheral venous blood treated by EDTA anticoagulant were taken for DNA extracted by Chelex-100 method. The upstream and downstream primers were synthesized according to the DNA sequence with fluorescence dye labled at 5’end. D10S1248 and D4S2364 loci were labled with 6-FAM, blue fluorescence; D14S1434 and D2S441 loci were labled with HEX, green fluorescence; D22S1045 and D1S1677 loci were labled with TAMRA, yellow fluorescence. Multiple fluorescent polymerase chain reaction(PCR)within the one three loci were contained in one tube, and there were two reaction systems, then ABI 310 Genetic Analyzer was used to capillary electrophoresis and analyzed the length of allele fragments. Genetic data collection and analysis softwares were used for data collection and genotyping. Allele frequencies and genotype frequencies were calculated by direct counting.χ~2 test by adopting SPSS10.0 statistical software was used to examine the difference between the cases and controls, Fisher’s exact test was used for the cell data less than 5. The odds ratio was also calculated.Results:1. Allele and genotype The D10S1248 locus, in cases and controls, 8 alleles and 7 alleles had been found, respectively, and 13 and 18 genotypes had been found, respectively. The D14S1434 locus, in cases and controls, 6 alleles and 8 alleles had been found, respectively, and 12 and 18 genotypes had been found, respectively. The D22S1045 locus, in cases and controls, 6 alleles and 9 alleles had been found, respectively, and 11 and 19 genotypes had been found, respectively. The D1S1677 locus, in cases and controls, 6 alleles and 8 alleles had been found, respectively, and 10 and 15 genotypes had been found, respectively. The D2S441 locus, in cases and controls, 7 alleles and 9 alleles had been found, respectively, and 14 and 24 genotypes had been found, respectively. The D4S2364 locus, in cases and controls, 4 alleles and 5 alleles had been found, respectively, and 7 and 10 genotypes had been found, respectively. 2. Comparison of allele frequency: Each of allele frequences showed no significant difference between cases and controls in D10S1248 and D22S1045 loci. The allele 14 in D14S1434, the allele 11 in D1S1677, the allele 14 in D2S441, and the allele 7 in D4S2346 showed significant difference between cases and controls. The odds ratios were 0.433, 28.71, 2.303, and 6.828, respectively.Conclusions:1. The 6 minSTR loci D10S1248, D14S1434, D22S1045, D1S1677, D2S441, and D4S2364 showed high polymorphism in both cases and controls. 2. The allele 14 in D14S1434 may be the protective gene of acute cerebral infarction. 3. The allele 11 in D1S1677, the allele 14 in D2S441, and the allele 7 in D4S2346 may be the risk gene of acute cerebral infarction that linked to pathogenesis of this disease.

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CLC: > Medicine, health > Neurology and psychiatry > Neurology > Cerebrovascular disease > Acute cerebrovascular disease ( stroke) > Cerebral embolism
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