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目的分析一个帕金森家系的致病基因。方法收集一个四代人的帕金森病家系,对其进行临床诊断,确认该家系为一个典型的原发性帕金森病家系。运用微卫星标记和两点法连锁分析,在该家系中对已有文献报道的致病基因和部分易感基因进行筛查,在9个已经有证据显示与帕金森病有关的基因附近共选取13个位点进行分析。结果这9个基因均不为这一家系的致病基因。结论该家系的致病基因并不为以上9个基因,值得进行全基因组扫描。
Objective To analyze the pathogenic genes of a Parkinson family. Methods A four-generation human family with Parkinson’s disease was collected and clinically diagnosed to confirm that the pedigree was a typical primary Parkinson’s disease pedigree. Using microsatellite markers and two-point linkage analysis, screening of pathogenic genes and partial susceptibility genes reported in the literature in the pedigree was conducted in 9 families that have been shown to have evidence of Parkinson’s disease-related genes 13 sites for analysis. As a result, none of the nine genes was the causative gene of this pedigree. Conclusion The pedigree is not a causative gene of the above nine genes and is worthy of genome-wide scanning.