title: Detection of compound heterozygous deletions in the parkin gene of fibroblasts in patients with autosomal recessive hereditary parkinsonism (PARK2).
abstract: Mutations in the parkin gene are a common cause of autosomal recessive, juvenile or early onset parkinsonism (PARK2). In this report, we use RT-PCR to detect compound heterozygous deletions of the parkin gene in fibroblasts from two cases of middle age-onset familial parkinsonism with lower extremities-dominant resting tremor and mild cogwheel rigidity. Although exonic amplification of the parkin gene showed a deletional mutation of exon 3-4, their family histories suggested that the deletional mutations were a compound heterozygous abnormality of discrete origin. Immunoblotting demonstrated that abundant Parkin protein was expressed in fibroblasts, but little expression was detected in lymphocytes. RT-PCR using RNA isolated from the patients' fibroblasts indicated a parkin mutation in this family that consisted of compound heterozygous deletions (del exon3-4/del exon3-5). These results suggest that RT-PCR using the patients' fibroblasts may be helpful for the detection of compound heterozygous abnormalities in the parkin gene.
authors.affiliation: Department of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1, Nishimachi, Yonago 683-8504, Japan. kazuhiro@grape.med.tottori-u.ac.jp
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Nakaso
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Adachi
authors.forename: Kenichi
authors.initials: K
authors.lastname: Yasui
authors.forename: Kenji
authors.initials: K
authors.lastname: Sakuma
authors.forename: Kenji
authors.initials: K
authors.lastname: Nakashima
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008297:Male; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000473:pathology*; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein