[Exon rearrangement analysis of parkin gene in patients with isolated early-onset parkinsonism using semi-quantitative PCR].
OBJECTIVE
To investigate the value of fluorescence semi-quantitative PCR in analysis of the exon rearrangement of parkin gene in Chinese patients with isolated early-onset parkinsonism (EOP).


METHODS
fluorescence semi-quantitative PCR was used to analyze the exon rearrangements of parkin gene in 61 isolated patients with EOP.


RESULTS
Exon deletions in parkin gene were found in 4 of the 61 isolated patients with EOP. One of them failed to show the PCR product of exon 4 and had homozygous deletions of exon 4. The normalized ratios (NRs) of exon 2, exon 3, and exon 4 of the other 3 patients were 0.47, 0.52, and 0.49 respectively, showing that they had heterozygous deletions of exon 2, 3, and 4 respectively. No exon multiplication was found in this study.


CONCLUSIONS
Exon rearrangement of parkin gene exists in Chinese patients with isolated EOP.
Guo
Ji-feng
JF
Department of Neurology, Xiangya Hospital, Central South University, Chansha 410008, China.
Tang
Bei-sha
BS
Li
Jing
J
Zhang
Yu-hu
YH
Zhang
Xue-wei
XW
Chen
Tao
T
Xia
Kun
K
Yan
Xin-xiang
XX
Cao
Li
L
Cai
Fang
F
Pan
Qian
Q
Shen
Lu
L
Jiang
Hong
H
D000293:Adolescent; D000328:Adult; D005091:Exons; D005260:Female; D015894:Genome, Human; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein