Preliminary Screening Of Familial Essential Tremor Pathogenic Genes

Background: Essential tremor is a most common dyskinesia disease of high incidence,with a prevalence of 4% among middle-aged people.the main clinical features is postural tremor,more often involved in the upper part of the upper limbs and hands,occasionally involving the head and vocal cords,rarely involving the lower limbs.However,tremor may not be a single clinical symptom.the clinical characteristics have the heterogeneity.Such as some patients are often accompanied by Parkinson’s disease,myoclonus,tension disorders,cerebellar dysfunction and hearing loss and other sensory symptoms.There are also patients with mild cognitive deficits and personality changes.The pathogenesis of this disease is still not clear,often onset of occult,slow progress,can be seen at any age.about 1/3 of idiopathic tremor patients have a family history,is now generally considered to be an autosomal dominant genetic disease,It has been clarified that the three loci are located at 3q13,2p22-25,6p23 sites.But different families,different races,the result of genetic analysis are not exactly the same.Objective: To screen the pathogenic genes of an ET family.Methods: A family of four consecutive generations of ET family was collected,.There were 8 patients,1: 1 ratio of male and female.The patient and the healthy person are analyzed using whole exon sequences sequencing.The single nucleotide polymorphisms were screened by using the database,such as db SNP and HAPMAP,then filtering the pointless SNPs,finally the most probable sites were screened out.Results: The mutations have 52016(including SNVs and Indels),54998(including SNVs and Indels),55500(including SNVs and Indels),and the candidate genes had DRD3 gene,FLNA gene,NGFR gene,etc.,after the biological analysis of the candidate genes,the DRD3 gene 2 exon presence mutation c: 25G> A is the most likely pathogenic mutations.Conclusion: DRD3 gene may be the genetic disease gene of this family.