Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA
Genet. mol. res. (Online)
;
5(3): 448-453, 2006. tab, graf
Artículo
en Inglés
| LILACS
| ID: lil-441039
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 noninvasive alternative in the screening of the FMR1 mutation among mentally retarded males.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
ADN
/
Pruebas Genéticas
/
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
/
Síndrome del Cromosoma X Frágil
/
Mucosa Bucal
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
/
Estudio de tamizaje
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Genet. mol. res. (Online)
Asunto de la revista:
Biologia Molecular
/
Genética
Año:
2006
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade Federal de São Paulo/BR
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