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.
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.
Authors: Nathan Pankratz; Michael W Pauciulo; Veronika E Elsaesser; Diane K Marek; Cheryl A Halter; Joanne Wojcieszek; Alice Rudolph; Clifford W Shults; Tatiana Foroud; William C Nichols Journal: Neurosci Lett Date: 2006-09-25 Impact factor: 3.046