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Abstract
Parkinson’s disease (PD) is considered as second most common neurodegenerative disorder, occurring mostly in men. Almost 9 genes have been reported to be involved in the progression of PD, if mutated. Among them, PARK2 gene is involved in 50% of the early onset cases. Aim of study was to do mutation analysis of RING domain of Parkin gene as there is no mutation reported previously. In current study, sequence analysis of RING1 domain of Parkin protein was performed in a sample set of 30 patients (selected from different areas of Punjab, Pakistan) to find out any Single Nucleotide Polymorphism (SNP).No SNP was detected in RING1 domain that could be related to the disease. The data suggests that no genetic predisposition in RING1 domain may be responsible for the occurrence of disease in local population. It may be due to genetic changes in any other part of the gene or due to other environmental factors. However, we have limitation of sample size due to less occurrence of disease in this area. The current study is very important for successive researches in Pakistan as the disease ratio is increasing continuously due to consanguineous marriages.

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Sadaf Niaz, Asif Nadeem, Misbah Hussain, Masroor Ellahi Babar, Tanveer Hussain, Riffat Mehboob, Fridoon Jawad Ahmad. (2016) Mutation analysis of RING1 domain of Parkin in early onset of Parkinson’s disease in Pakistani patients-a pilot study, , Volume 31, Issue 2.
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Punjab University Journal of Zoology
Volume
Volume 31
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