[Mutation detection of parkin gene by denaturing high performance liquid chromatography].
OBJECTIVE
To detect parkin gene mutation of early-onset parkinsonism (EOP) by denaturing high performance liquid chromatography (DHPLC).


METHODS
The blood cell genomic DNA of 82 EOP patients was isolated. Exons of parkin gene were amplified by PCR. The PCR products were detected by DHPLC. The sample with abnormal peak shape was sequenced.


RESULTS
Three point mutations were identified in 82 EOP patients compared with 100 healthy controls. Mutations in intron include IVS1-39 G --> T and IVS9 +18 C --> T. The T1422C mutation was in coding region and resulted in 441 Cys --> Arg.


CONCLUSIONS
Three heterozygous mutations are found in sporadic EOP patients and genetic diagnosis of parkin gene by DHPLC is applicable in EOP patients.
Li
Jing
J
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P. R. China.
Tang
Bei-sha
BS
Guo
Ji-feng
JF
Zhang
Yu-hu
YH
Yan
Xin-xiang
XX
Mu
Ying-feng
YF
Zhang
Xue-wei
XW
Xia
Kun
K
Pan
Qian
Q
Shen
Lu
L
Jiang
Hong
H
D000328:Adult; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004252:DNA Mutational Analysis; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics; D016133:Polymerase Chain Reaction; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein