Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital.
Artigo
em Inglês
| IMSEAR
| ID: sea-42557
ABSTRACT
Methylation specific PCR (MS-PCR) is a technology for a sensitive detection of methylation in the gene. This assay was developed for diagnosis of methylation-related diseases including fragile X syndrome (FXS), the most common X-linked mental retardation caused by a CGG trinucleotide repeat expansion. Affected individuals (full mutation, FM) have CGG greater than 200 repeats, while normal individuals and premutation (PM) carriers have 6-54 and 55-200 repeats, respectively. Only FM individuals are correlated with methylation of the gene. The authors tested this assay on known 35 DNA samples (15 normal, 2 PM and 18 FM) and a prospective study of 60 males referred for FXS screening in Songklanagarind hospital. In addition, the authors tested on 2 prenatal cases. All results were corresponded to PCR for CGG repeats and/ or Southern blot analysis. The authors concluded that MS-PCR provides an accurate method for methylation detection of FXS.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Tailândia
/
Humanos
/
Masculino
/
Sequências Repetitivas de Ácido Nucleico
/
Marcadores Genéticos
/
Reação em Cadeia da Polimerase
/
Estudos Prospectivos
/
Repetições de Trinucleotídeos
/
Metilação de DNA
/
Proteína do X Frágil da Deficiência Intelectual
Tipo de estudo:
Estudo observacional
País/Região como assunto:
Ásia
Idioma:
Inglês
Ano de publicação:
2005
Tipo de documento:
Artigo
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