D.M. Christofolini, M.V.N. Lipay, M.A.P. Ramos, D. Brunoni, M.I. Melaragno
Published July 31, 2006
Genet. Mol. Res. 5 (3): 448-453 (2006)

About the authors
D.M. Christofolini, M.V.N. Lipay, M.A.P. Ramos, D. Brunoni, M.I. Melaragno

Corresponding author
M.I. Melaragno
E-mail: melaragno.morf@unifesp.br

ABSTRACT

Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene (FMR1). In the present study, blood and buccal cells of 53 mentally retarded patients were molecularly analyzed for FMR1 mutation by PCR. Our data revealed that DNA extraction from buccal cells is a useful noninvasivealternative in the screening of the FMR1 mutation among mentally retarded males.

Key words: Fragile X syndrome, Mental retardation, Buccal cells, DNA extraction