[Mutation analysis of DJ1 gene in 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.


CONCLUSIONS
DJ1 mutations were rare in Chinese patients with autosomal recessive early-onset Parkinsonism.
Guo
Ji-feng
JF
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
Tang
Bei-sha
BS
Zhang
Yu-hu
YH
Xia
Kun
K
Cai
Fang
F
Pan
Qian
Q
Shen
Lu
L
Jiang
Hong
H
Zhao
Guo-hua
GH
Yan
Xin-xiang
XX
Cao
Li
L
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D000071617:Protein Deglycase DJ-1; D055815:Young Adult
D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1