Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene
互联网
444
Mutations in the parkin gene have been shown to be responsible for a substantial number of cases of autosomal recessive early onset parkinsonism (AR-JP, PARK2, OMIM 602544) worldwide (1 –4 ). The gene on chromosome 6q25.2-27 consists of 12 coding exons with an open reading frame of 1395 bp. The gene is estimated to cover >1.5 Mb. The gene product, Parkin, functions an an E3-ubiquitin-protein ligase (5 ). The only known substrate to date is CDCrel-1 (6 ) but the existence of other substrates is likely (5 ).
