Vol. 6 (04) pp. 1144-1152 DOI: 10.21474/IJAR01/6963

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

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  • National Center of Neurological Sciences, Alneelain university Sudan, Alsadig Gassoum.
  • National Center of Neurological Sciences, Almadain College for Medical Sciences and Technology (ACMST) Sudan.
  • National Center of Neurological Sciences Sudan.
  • National Center of Neurological Sciences, Sudan University of Science and technology Sudan.
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Abstract

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.

How to Cite This Article

Eteedal Ahmed A. Ibrahim, Alsadig Gassoum, Sawsan A.H. Aldeaf, Nihad Elsadig, Salma Hossin, Mohamed Saad A. Saad and Samar Albashir. (2018); INSERTION C V317RFS*75 WITH FRAME SHIFT MUTATION, WAS SHOWN TO BE MORE FREQUENT IN PINK1 GENE IN SUDANESE PATIENTS., International Journal of Advanced Research (IJAR), 6 (04), 1144-1152, ISSN 2320-5407. DOI: https://doi.org/10.21474/IJAR01/6963

Corresponding Author

Alsadig Gassoum
national center of neurological sciences, Khartoum, Sudan

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