PP91. ANALYSIS OF PREMUTATIONS IN THE FMR1 GENE IN PARKINSON'S DISEASE
D. ISLAMGULOV, A. Karunas, E. Khusnutdinova Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences e-mail: islamgulov@gmail.com
*Corresponding Author:
page: 88

Abstract

The presence of late-onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X associated tremor/ataxia syndrome (FXTAS) is parkinsonism. It is important to identify positive genetic factors in a study population with a high prevalence of premutation alleles in the FMR1 gene. To test the possible association between expanded FMR1 alleles and Parkinson s disease (PD), we determined the size of the FMR1 CGG repeat in 134 male cases of clinically diagnosed parkinsonism, the majority of whom had PD and 217 healthy control subjects from different ethnic groups of Volgo-Ural region of Russia. DNA analysis of the CGG expansion was performed by Expand Long PCR using 7-deaze dGTP. None of our patients had expanded FMR1 repeats within the premutation range (55 200 CGG repeats). One patient in control (2.1%) carries intermediate-size allele (45 CGG repeats). We conclude that CGG repeat expansions in FMR1 are not a common cause of parkinsonism in our samples.




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