Abstract
Parkinson’s disease is a common neurodegenerative syndrome characterized by loss of dopaminergic neurons in the substantia nigra, formation of intraneuronal inclusions (Lewy bodies) and an extrapyramidal movement disorder. The Pathogenesis of Parkinson’s disease may be influenced by genetic and environmental factors.Cytochrome P450 2D6 (encoded by gene CYP2D6) helps to process toxic environmental compounds. Individual variations in CYP2D6 expression may influence susceptibility to Parkinson’ s disease. Phenotypically poor metabolizers (PMs) of CYP2D6 have been reported to have a higher risk (2-2.5 fold) than extensive metabolizers (EMs) for developing Parkinson’s disease. The frequencies of PM/EM genotypes and FspI RFLP in Chinese patients and controls were determined by allele-specific polymerase chain reaction (AS-PCR) and restriction enzyme digestion, respectively. No significant allelic association between the CYP2D6 gene and Parkinson’s disease was found. These results suggested that the CYP2D6 gene may not be a major predisposition factor for Parkinson’s disease among Chinese in Taiwan.Transforming growth factor-alpha（TGF-alpha）is a member of the epidermal growth factor (EGF) family. TGF-alpha induces biological response by binding to the EGF receptor. It has been reported that the substantia nigra of TGF-alpha knockout mice contained 50% fewer dopaminergic neurons than the controls. TGF-alpha gene is located at chromosome 2p13, which is a susceptibility locus for Parkinson’ s disease. Previous studies revealed that a polymorphism in intron 5 of TGF-alpha was associated with Parkinson’s disease. The coding region of TGF-alpha was analyzed by DNA sequencing. No mutation was found between patients and controls within these regions. Besides, our data showed several differences from the sequences in GenBank in intron 1, 2, 3, 4, and 3`-UTR. We also provided a novel RFLP for the detection of the GCA (alanine) deletion in exon 2.