Polymorphism in Spg4 as an Underlying Cause of Hereditary Spastic Paraplegia
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2018, Vol 17, Issue 8
Abstract
Background: This study was done to find out the genetic cause of hereditary spastic paraplegia and determine the existing polymorphism. This can lead to opening of a new horizon in the field of hereditary spastic paraplegia. Study may provide basis for genetic counseling of these patients. Objective of study: The objective of the study is to find out new or existing gene which can cause hereditary spastic paraplegia .Find out the polymorphism in this gene which can lead to hereditary spastic paraplegia. Method: The present study was undertaken at Department of Anatomy, Institute of Medical Science, Sir Sunderlal Hospital, Banaras Hindu University, Varanasi, Uttar Pradesh, India. It was a cross sectional hospital based study over a period of 2 years. Ethical approval was obtained for study from institute. A written informed consent was obtained from the patients and family member. A pedigree was drawn of three generation. Blood sample of 5 ml was collected from the patient and family members. DNA was isolated from the blood samples.DNA of clients with hereditary spastic paraplegia were considered as experimental sample and DNA of family member without phenotype was consider as control. Single nucleotides array was performed. UCSC genome browser was used and gene search was done to find the relevant gene. SPG 4 was identified. Primer was design for the exons of this gene. Primers were ordered and using this forward and reverse primer, Polymerase chain reaction was performed and gel electrophoresis was done for amplification .Amplified product was send to Europhins Banglore for sequencing. Than sequence were subjected for analysis. But no polymorphism was found during the analysis. Results: In the single nucleotide array we found SPG4 gene which was associated with hereditary spastic paraplegia. We were unable to detect any polymorphism in patient affected with hereditary spastic paraplegia. Conclusion: This study provides evidence that a heritable factor can causes paraplegia in some families and reiterates the importance of recessive genes as a cause of hereditary spastic paraplegia in this part of India.
Authors and Affiliations
jaya Dixit, Royana Singh, R. N. Chaurasia Professor, Animesh Kumar
Keywords
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