INSERTION C V317RFS*75 WITH FRAME SHIFT MUTATION, WAS SHOWN TO BE MORE FREQUENT IN PINK1 GENE IN SUDANESE PATIENTS

Introduction: Descriptions of Parkinson's disease has been known as far as 5000 BC and is the second most common neurodegenerative disorder after Alzheimer disease, and the most common movement disorder. In 1997, a genetic linkage analysis showed that chromosome 6q25.2-27 harboured an unidentified gene responsible for autosomal recessive juvenile Parkinsonism (ARJP) in 13 Japanese families. One year later, the Shimizu group cloned the AR-JP gene, PARK2, and identified more Japanese AR-JP patients with either an exon 4 or a large-scale deletion between exons 3 and 7. The objective of this study is to screen Pink1 gene exon 4 in early onset Parkinson?s disease among Sudanese patients. Material and methods: This is a pilot study that included 51 samples from early onset Parkinson?s disease patients diagnosed clinically at the National Centre of Neurological Sciences, during the period of December 2016 to December 2017. Results: ins. C in exon 4 of PINK1 gene was detected in 51.9% of the samples, C>T mutation (rs142183624) was found in 41% of the samples. In addition to that, polymorphisms; G>C was detected in one sample, and T>C (L314P) in two samples. Conclusion: Insertion C V317Rfs*75 with frame shift mutation, was shown to be more frequent in Pink1 gene in our data.