A novel point mutation in parkin gene was identified in an early-onset case of Parkinson's disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the distribution of possible novel mutation of parkin gene in variant subset patients with Parkinson's disease (PD) in China and to explore the role of parkin gene in the pathogenesis of PD.</p><p><b>METHODS</b>Seventy patients were divided into early onset and late-onset groups, and 70 healthy subjects were included as controls. Genomic DNA from 70 normal controls and from those of PD patients were extracted from peripheral blood leukocytes with standard procedures. Mutations of parkin gene (exons 1-12) in all subjects mentioned above were screened by PCR-SSCP. And in the samples with abnormal SSCP result, further sequencing was performed to confirm the mutation and its location.</p><p><b>RESULTS</b>A new missense mutation (Gly284Arg) on exon 7 was found in a sample, while 4 samples from all subjects exhibited abnormal mobility shift on SSCP electrophoresis. All mentioned DNA variants were sourced from the samples of the patients with early-onset PD.</p><p><b>CONCLUSION</b>Point mutation in parkin gene also contributes partly to the development of early-onset Parkinson's disease in Chinese population.</p>