中国汉族人群早发性帕金森综合征DJ-1基因突变分析

Screening for DJ-1 gene mutation in Chinese Han patients with early-onset Parkinsonism

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.