[Exon rearrangement analysis of parkin gene in patients with isolated early-onset parkinsonism using semi-quantitative PCR].
Zhonghua Yi Xue Za Zhi
; 86(21): 1447-9, 2006 Jun 06.
Article
em Zh
| MEDLINE
| ID: mdl-16842693
ABSTRACT
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.CONCLUSION:
Exon rearrangement of parkin gene exists in Chinese patients with isolated EOP.
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Base de dados:
MEDLINE
Assunto principal:
Reação em Cadeia da Polimerase
/
Éxons
/
Transtornos Parkinsonianos
/
Ubiquitina-Proteína Ligases
Idioma:
Zh
Ano de publicação:
2006
Tipo de documento:
Article