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Relationship Between Polymorphism Of Slitrk6 And Genetic Susceptibility To Tourette Syndrome In Chinese Han Population

Posted on:2019-09-02Degree:MasterType:Thesis
Country:ChinaCandidate:X Z ZhangFull Text:PDF
GTID:2394330566490374Subject:Clinical laboratory diagnostics
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Objective The clinical manifestations of Tourette syndrome(TS)are complex and diverse,it is named mainly for its typical clinical manifestations and develops predominantly during childhood.The onset of it's natural history and high genetic characteristics,and many psychiatric co-morbidities,indicate that many factors affect the incidence of TS.After years of research have indicated that in the pathogenesis of TS,genetic factors are the most common cause,nonetheless the specific susceptible or pathogenic genes is still difficult to confirm.The objective of our study was to search the possible relationship between SLITRK6 susceptibility and polymorphism to Tourette syndrome in Chinese Han population.Methods We selected 399 TS nuclear family trios from the Chinese Han population,and performed Taq Man allelic discrimination real–time PCR to genotype three single nucleotide polymorphisms in SLITRK6(rs9513670,rs3825413 and rs7336083).The transmission disequilibrium test(TDT),haplotype relative risk(HRR)and haplotype-based HRR(HHRR)were used in order to analyze the association between the genetic distribution of SLITRK6 and TS.Results(1)The results of Hardy-Weinberg equilibrium test showed that the genetic distribution of all the subjects was balanced and the population was representative;(2)The results of TDT test showed that there was no significant correlation between the three loci of SLITRK6 gene and the pathogenesis of TS(rs9513670: ?2=1.278,P=0.282,OR=0.784,95%CI=0.555-1.108;rs3825413: ?2=0.719,P=0.427,OR=0.775,95%CI=0.554-1.084;rs7336083: ?2=0.827,P=0.391,OR=1.035,95%CI=0.782-1.370);(3)HRR results also showed that there was no imbalance in gene transmission(rs9513670: ?2=0.501,P=0.524,OR=0.905,95%CI=0.685-1.194;rs3825413: ?2=0.125,P=0.723,OR=0.951,95%CI=0.720-1.255;rs7336083: ?2=1.863,P=0.172,OR=1.230,95%CI=0.913–1.657);(4)HHRR test further indicated that there was no significant association between the three loci of SLITRK6 gene and the pathogenesis of TS(rs9513670: ?2=1.342,P=0.247,OR=1.136,95%CI=0.915-1.411;rs3825413: ?2=0.757,P=0.384,OR=1.099,95%CI=0.888-1.361;rs7336083: ?2=0.546,P=0.460,OR=1.077,95%CI=0.885-1.311).Conclusion(1)Nuclear family trios linkage analysis showed that there was no obvious connection between rs9513670,rs3825413 and rs7336083 in SLITRK6 and TS in Chinese Han population;(2)SLITRK6 gene may not be the susceptibility gene of TS.(3)Further research needs to be performed in different races and regions with a larger amount of specimens and more polymorphic sites to identify susceptibility genes and their susceptibility loci in TS patients in Chinese Han population.(4)On the other hand,it is necessary to make the research more stereoscopic and systematic by the progress of research technology and the depth of research,so as to lay a foundation for revealing the pathogenesis and genetic model of TS,and for the next step of individualized and accurate medical treatment.
Keywords/Search Tags:Tourette syndrome, Genetic susceptibility, SLITRK6 gene, Single Nucleotide Polymorphisms
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