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Year : 2014  |  Volume : 9  |  Issue : 10  |  Page : 1068-1074

The human δ2 glutamate receptor gene is not mutated in patients with spinocerebellar ataxia

1 Department of Neurosurgery, Changzheng Hospital, the Second Military Medical University, Shanghai, China
2 Department of Neurology, the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian Province, China
3 Department of Neurology, the Affiliated Sanming First Hospital, Fujian Medical University, Sanming, Fujian Province, China

Correspondence Address:
M.D. Chaodong Wang
Department of Neurology, Affiliated Sanming First Hospital, Fujian Medical University, Sanming 365000, Fujian Province
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Source of Support: This study was supported by grants from the National Natural Science Foundation of China, No. 81371320, and the Project for Young and Middle-Aged Talents of Fujian Health Care System, No. 2013-ZQN-JC-29., Conflict of Interest: None

DOI: 10.4103/1673-5374.133173

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The human glutamate receptor delta 2 gene (GRID2) shares 90% homology with the orthologous mouse gene. The mouse Grid2 gene is involved with functions of the cerebellum and spontaneous mutation of Grid2 leads to a spinocerebellar ataxia-like phenotype. To investigate whether such mutations occur in humans, we screened for mutations in the coding sequence of GRID2 in 24 patients with familial or sporadic spinocerebellar ataxia and in 52 normal controls. We detected no point mutations or insertion/deletion mutations in the 16 exons of GRID2. However, a polymorphic 4 nucleotide deletion (IVS5-121_-118 GAGT) and two single nucleotide polymorphisms (c.1251G>T and IVS14-63C>G) were identified. The frequency of these polymorphisms was similar between spinocerebellar ataxia patients and normal controls. These data indicate that spontaneous mutations do not occur in GRID2 and that the incidence of spinocerebellar ataxia in humans is not associated with GRID2 mutation or polymorphisms.

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