摘要
目的探讨中国汉族人群早发性帕金森综合征(early-onset parkinsonism, EOP)DJ-1基因突变情况。方法应用实时荧光定量聚合酶链反应(PCR)结合DNA直接测序技术对160例EOP患者进行了DJ-1基因突变分析。结果对DJ-1基因外显子重排突变分析发现,4例新的DJ-1基因外显子2的杂合缺失突变,突变频率2.5%(4/160);DNA直接测序方法未发现DJ-1基因的致病突变,发现了4种已报道的单核苷酸多态(SNP)和1种新的SNP,分别为:IVS4+30 T→G、IVS4+45 G→A、IVS4+46 G→A、IVS5+31 G→A和IVS6+52C→T。结论DJ-1基因外显子2的杂合缺失突变扩展了DJ-1基因的突变谱,可能是中国汉族人群EOPDJ-1基因突变的重要形式。
Objective To screen for DJ-1 gene mutation in Chinese Han patients with early-onset Parkinsonism (EOP). Methods Real-time PCR combining DNA direct sequencing was used to identify mutation in DJ-1 gene in 160 Chinese Han patients with EOP. Results Four novel heterozygous deletion mutations in exon 2 were detected in this group by real-time PCR, suggesting 2. 5% (4/160) mutation frequency. PCR-direct sequencing detected four single nucleotide polymorphism (SNP) and 1 novel SNP: IVS4 +30 T→G, IVS4 +45 G→A, IVS4 +46 G→A, IVS5 +31 G→A and IVS6 +52 C→T. Conclusion Our findings enlarge the mutation spectrum of DJ-1 gene. Heterozygous deletion mutation in exon 2 may be an important mutation type in Chinese Han EOP patients.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2010年第3期191-195,共5页
Chinese Journal of Neurology
基金
国家重点基础研究发展计划“973计划”资助项目(2006ch500700)
国家863高科技研究发展计划资助项目(2006AA02A408)
国家自然科学基金资助项目(30770735,30971035,30900469)
关键词
帕金森障碍
癌基因蛋白质类
细胞内信号肽和蛋白质类
外显子
杂合子丢失
聚合酶链反应
Parkinsonian disorders
Oneogene proteins
Intraeellular signaling peptides and proteins
Exons
Loss of heterozygosity
Polymerase chain reaction