title: FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients.
abstract: A recent study has shown that FBXO7 is a causative gene for PARK15-linked autosomal recessive early-onset Parkinsonism which was described by Davison for the first time in 1954 and known as Pallido-Pyramidal Disease or Parkinsonia-Pyramidal Syndrome in the past. In order to investigate the characteristics of FBXO7 gene mutations in Chinese early-onset Parkinsonism patients, we performed polymerase chain reaction and DNA direct sequencing on 135 patients and 200 controls. In this study, we found 10 polymorphisms including two novel polymorphisms (-274G-->C, c.A155G), but no pathogenetic mutations in the FBXO7 gene were detected. This suggests that FBXO7 mutations may be rare in Chinese early-onset Parkinsonism patients.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, PR China.
authors.forename: Lin-zi
authors.initials: LZ
authors.lastname: Luo
authors.forename: Qian
authors.initials: Q
authors.lastname: Xu
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Chang-he
authors.initials: CH
authors.lastname: Shi
authors.forename: Jiao-hua
authors.initials: JH
authors.lastname: Wei
authors.forename: Zhi-gao
authors.initials: ZG
authors.lastname: Long
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People; D002681:China; D044783:F-Box Proteins / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D044783:F-Box Proteins; C489149:FBXO7 protein, human