A new point mutation on exon 2 of parkin gene in Parkinson's disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect the relationship between point mutations on exon 2 of parkin gene and sporadic early-onset Parkinson's disease.</p><p><b>METHODS</b>The point mutations on exon 2 of parkin gene were detected using polymerase chain reaction(PCR), agarose electrophoresis, single strand conformation polymorphism(SSCP), DNA sequencing and analysis of restrict enzyme in DNA of 60 Parkinson's disease patients with an onset age under 50 and 120 normal controls.</p><p><b>RESULTS</b>One homozygous mutation (G(237)-->C) on exon 2 was found by sequencing and verified by analysis of restrict enzyme, whereas no mutation was found in normal controls.</p><p><b>CONCLUSION</b>Point mutations on exon 2 of parkin gene are likely to be related to sporadic early-onset Parkinson's disease.</p>