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Neurosci Lett. 2006 May 29;400(1-2):44-7. Epub 2006 Mar 6.

Detection of compound heterozygous deletions in the parkin gene of fibroblasts in patients with autosomal recessive hereditary parkinsonism (PARK2).

Author information

1
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

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.

PMID:
16517073
DOI:
10.1016/j.neulet.2006.02.035
[Indexed for MEDLINE]

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