[Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism].
[Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism].
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Original abstract
OBJECTIVE: To investigate the mutation characteristics of DJ1 gene in Chinese patients with autosomal recessive early-onset Parkinsonism (AR-EP). METHODS: Mutations of DJ1 gene were screened by polymerase chain reaction combined with DNA direct sequencing in index patients with AR-EP from 11 unrelated families. RESULTS: No pathogenetic mutations in the DJ1 gene were detected in this group. Six intronic DJ1 polymorphisms (IVS1-15T-->C, IVS4+30T-->G, IVS4+45G-->A, IVS4+46G-->A, IVS5+31G-->A, g.168-185del) were found. Three of them (IVS1-15T-->C, IVS4+45G-->A, IVS4+46G-->A) were not reported previously. CONCLUSION: DJ1 mutations were rare in Chinese patients with autosomal recessive early-onset Parkinsonism.