Screening and risk analysis of genes associated with early onset Parkinson's disease in families
Objective:To explore disease-related mutations and its effect on disease in the population through high-throughput gene screening of the members of an early-onset Parkinson's disease(EOPD)genetic family.Methods:SNP microarray and whole exon sequencing(WES)were performed in 19 members of early-onset PD genetic families.Moreover,the sequencing of 58 sporadic patients was verified to screen out mutation genes with high risk.Results:Linkage analysis found 3 chromosome re-gions,and WES and coexpression analysis screened out 24 genes that may be associated with PD.The Spearman correlation coeffi-cient R>0.6 and P<0.05 between five loci genotype and disease outcome indicated that there was a correlation.Conclusion:Through multilevel mutation site screening analysis in clinical patients,we find that five mutant genes Pdxdc1,Ddx56,Aspn,Rbm28 and Shisa9 in exon region may be closely associated with PD.More functional research will be conducted in the future.
国家科技期刊平台
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