High-throughput Sequencing Analysis Of Candidate Genes Exon Of GAK,FLJ43860, CD38, C18orf1, PRDM2, WNT9a For Sporadic Parkinson’s Disease In A Chinese Han Population

Objective: To find the mutations of bases which may be relation to SPD，we takehigh-throughput sequencing of candidate genes GAK、 FLJ43860、 CD38、C18orf1、PRDM2、WNT9a exon for sporadic Parkinson’s disease in a Chinese Hanpopulation。Methods: The clinical dates and peripheral venous blood of50cases of confirmedSPD、50controls of healthy were collected. We statistical analyzed the clinicalrecords of SPD, extracting DNA respectively, determination DNA concentration andoptical density(OD), Design the susceptibility gene’s exon primers，syntheticprimers，amplification of the exon，high-throughput sequencing，data analysis，screening the micromutation of the case and control， and Large Fragmentdeficiency or triplet expansion repeat mutations，take the sequencing results of thecase and control into chi square test，screening the mutation site which P<0.05，then take the results into SIFT analysis and LOF analysis。Results:①The mean age at oneset of50cases was59.6±10.5years,onset before40years and after80years was less.Male to female ratio was1.1:1; The mean age atoneset of50controls was59.1±11.3years. Male to female ratio was1.6:1;②Through the high-throughput sequencing，we get37197SNPs in the case，29780SNPs in the control；③take the all SNPs of the case and control into chi squaretest，there are1888SNPs which P<0.05，994in GAK,446in FLJ43860，77inCD38，92in C18orf1，78in PRDM2and201in WNT9a respectively；④Takethe1888SNPs into SIFT analysis found that64SNPs may be damaging to thedisease，and all of them are nonsynonymous mutation，9in FLJ43860and55inGAK。⑤Take the1888SNPs into LOF analysis found that236nonsynonymousmutation，25in C18orf1，82in FLJ43860and129in GAK。Conclusions: SPD characterized by static tremor，myotonia，bradykinesia andabnormal gesture， mainly in old person， male outnumber female， diagnosismainly rely on history and clinical manifestation.Through the sequencing of the50cases and50controls DNA，we get1888mutational sites in the six gene，we put the results into SIFT analysis and LOF analysis，get64mutation SNPs through SIFTanalysis maybe damaging to the disease and get236nonsynonymous mutationsthrough LOF analysis。The results have to be taken into test。...