OBJECTIVETo establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1) exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP).

METHODSReal-time PCR was used to analyze the exon copy number in 22 probands with AREP from unrelated Chinese Han families and 30 healthy controls.

RESULTSCopy numbers of exons 1-8 of the PINK1 gene were analyzed, and satisfactory reaction conditions and primers for exons of the PINK1 gene were obtained. No exon CNV in the PINK1 gene was detected in this group.

CONCLUSIONAn analytical method for PINK1 gene exon copy number was established. The exon CNV in the PINK1 gene was rare in Chinese patients with AREP.

Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Exons ; genetics ; Female ; Gene Dosage ; genetics ; Humans ; Male ; Parkinsonian Disorders ; genetics ; Polymerase Chain Reaction ; methods ; Protein Kinases ; genetics ; Young Adult