摘要
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 susceptibility genes of a Parkinson＇s Disease （PD） family. Methods The blood samples of a four-generation classic idiopathic PD family were collected. Two-point LOD score method was applied to analyze the linkage disequilibrium between the disease locus and microsatellite markers. Results We studied 13 markers near the 9 genes that had been reported to be associated with PD.No obvious evidence showed that the selected markers had anything correlation with PD locus. Conclusion These 9 genes are not the susceptibility genes of PD in this family.
出处
《中国医学科学院学报》
CAS
CSCD
北大核心
2006年第3期368-371,共4页
Acta Academiae Medicinae Sinicae
基金
云南地区重大疾病遗传资源的收集
保存与利用项目(2002BA711A08)
国家自然科学基金(30400264)
中华医学基金(CMB04-805)~~
