Mutation detection of parkin gene by denaturing high performance liquid chromatography.
- Author:
Jing LI
1
;
Bei-sha TANG
;
Ji-feng GUO
;
Yu-hu ZHANG
;
Xin-xiang YAN
;
Ying-feng MU
;
Xue-wei ZHANG
;
Kun XIA
;
Qian PAN
;
Lu SHEN
;
Hong JIANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; Chromatography, High Pressure Liquid; methods; DNA Mutational Analysis; Humans; Middle Aged; Mutation; Parkinson Disease; diagnosis; genetics; Polymerase Chain Reaction; Ubiquitin-Protein Ligases; genetics
- From: Chinese Journal of Medical Genetics 2007;24(4):449-452
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect parkin gene mutation of early-onset parkinsonism (EOP) by denaturing high performance liquid chromatography (DHPLC).
METHODSThe 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.
RESULTSThree 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.
CONCLUSIONThree heterozygous mutations are found in sporadic EOP patients and genetic diagnosis of parkin gene by DHPLC is applicable in EOP patients.
