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Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA.

Year: 2006

Type: article

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.

Source: PubMed

Authors: D M Christofolini, M V N Lipay, M A P Ramos, D Brunoni, M I Melaragno

Institution: Universidade Federal de São Paulo

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Fundação de Amparo à Pesquisa do Estado de São Paulo, Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

OpenAlex ID: W2147386384

FWCI: 0.154

Cites: 19

Cited by: 4

Related to: 10