Development Of A Dural-color Multiplex Ligation Dependent Probe Amplification And Its Application In Diagnosis Of Spinocerebellar Ataxia

BackgroundThe hereditary spinocerebellar ataxias (SCA) are a group of neurodegenerative disease which shares high clinical and genetic heterogeneity. Clinically, the neurological presentation is in the third to fourth decade of life, and includes cerebellar ataxia, dysarthria, intention tremor, ophthalmoparalysis, pyramidal and (or) extrapyramidal signs.The neuropathological features of these disease mainly involve the cerebellum, the brainstem and the spinal cord. The pathological change is neuron loss and gliosis hyperplasia. The hereditary ataxias can be subdivided by mode of inheritance:autosomal dominant,autosomal recessive,X-linked. Up to now, at least 29 genetic loci for SCAs have been identified,19 genes have been cloned. SCA15/16 is a relative rare subtype of SCA. At present, only nine families have been identified worldwide, in which partial deletions and missense mutation of the inositol triphosphatereceptor type I gene (ITPR1)have been reported. Till now, there are no relevant reports in mainland China.ObjectiveTo investigate the mutation frequencies of ITPR1 gene in AD-SCA patients by using dural-color synthetic multiplex ligation-dependent probe amplification(MLPA). MethodsWe took dural-color MLPA to detect the mutation of ITPR1 gene in 104 AD-SCA patients.ResultsNo ITPR1 gene mutation were found in 104 AD-SCA patients detected by dural-color MLPA,Conclusions1.First established the mutation detection for the ITPR1 mutation by dural-color MLPA in china.2.The ITPRl mutation in Chinese AD-SCA patients may be rare. KEY WORDS spinocerebellar ataxia, ITPR1,MLPA...