海南医学院学报2024，Vol.30Issue(12)：888-896,9.DOI:10.13210/j.cnki.jhmu.20240417.001
早发型帕金森病家系相关基因的筛查和危险度分析
Screening and risk analysis of genes associated with early onset Parkinson's disease in families
摘要
Abstract
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.关键词
早发型帕金森病/全外显子测序/连锁分析Key words
Early-onset Parkinson's disease/Whole exon sequencing/Linkage analysis分类
医药卫生引用本文复制引用
许茜,林瑶,范丽华,林昆明,吴方真,周美,倪慧心,刘海鑫,范自立,高正涛..早发型帕金森病家系相关基因的筛查和危险度分析[J].海南医学院学报,2024,30(12):888-896,9.基金项目
This study was supported by National Natural Science Foundation of China Youth Program(81904263) （81904263）
Fujian Province Traditional Chinese Medicine Research Project Plan(2021zyjc02) （2021zyjc02）
Fujian University of Traditional Chinese Medicine Traditional Chinese Medicine Health Management Joint Provincial Clinical Key Specialty Construction Project(Geriatrics)(XJG2023018)国家自然科学基金青年项目(81904263) （Geriatrics）
福建省中医药科研项目计划(2021zyjc02) （2021zyjc02）
福建中医药大学中医健康管理学联合省级临床重点专科建设项目(老年病科)(XJG2023018) （老年病科）
