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

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

Author Christofolini, Denise Maria Autor UNIFESP Google Scholar
Lipay, Monica Vannucci Nunes Autor UNIFESP Google Scholar
Ramos, Marco Antonio Paula de Autor UNIFESP Google Scholar
Brunoni, Decio Autor UNIFESP Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
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.
Keywords fragile X syndrome
mental retardation
buccal cells
DNA extraction
Language English
Date 2006-01-01
Published in Genetics And Molecular Research. Ribeirao Preto: Funpec-editora, v. 5, n. 3, p. 448-453, 2006.
ISSN 1676-5680 (Sherpa/Romeo, impact factor)
Publisher Funpec-editora
Extent 448-453
Origin http://www.funpecrp.com.br/gmr/year2006/vol3-5/gmr0214_abstract.htm
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000203011900004
URI http://repositorio.unifesp.br/11600/43715

Show full item record




File

Name: WOS000203011900004.pdf
Size: 474.9Kb
Format: PDF
Description:
Open file

This item appears in the following Collection(s)

Search


Browse

Statistics

My Account