Genetic analysis of SCA8 trinucleotide repeats in Parkinson's disease.

• Main Author: Lin, Cynthia XinTian.
• Other Authors: School of Biological Sciences
• Format: Final Year Project
• Language: English
• Published: 2013
• Subjects: DRNTU::Science
• Online Access: http://hdl.handle.net/10356/53805
• Institution: Nanyang Technological University

Trinucleotide repeats have attracted special interest due to their involvement in human neurodegenerative disorders known as the triplet repeat expansion diseases, such as the Spinocerebellar ataxia (SCA). Different SCA subtypes such as SCA3, SCA17 and SCA8 appears to be associated with Parkinsonism and a broad range of neurological clinical presentation. However, there is limited data on SCA8 screening in ethnic Chinese with Parkinson's disease (PD). Therefore in this study, we screened for SCA8 trinucleotide repeats in our local ethnic Chinese population. A total of 169 subjects comprising of 87 PD cases and 82 healthy controls were examined. Polymerase chain reaction (PCR), sequencing analysis and fluorescent PCR were used to check for SCA8 CAG/CTG trinucleotide repeats expansions. We discovered expanded molecular bands of SCA8 with approximately 97 CAG/CTG repeats number in two PD cases, yielding a prevalence of 2.3% in our PD study population. No controls were positive for SCA8 trinucleotide repeats. This suggests that SCA8 may be associated with PD in Singapore.