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Genetic Diagnosis of Beckwith Wiedemann Syndrome using Methylation Specific PCR-RFLP Method
Journal of Genetic Medicine ; : 133-137, 2010.
Artículo en Coreano | WPRIM | ID: wpr-6883
ABSTRACT

PURPOSE:

Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome caused by a methylation abnormality at chromosome 11p15, consisting of two imprinting centers, BWSIC1 (IGF2, H19) and BWSIC2 (LIT1, KvDMR). This study evaluated the applicability of a methylation-specific (MS) PCR RFLP method for the genetic diagnosis of BWS. MATERIALS AND

METHODS:

A total of 12 patients were recruited based on clinical findings. Karyotyping was performed using peripheral blood leukocytes, and genomic DNA was treated with bisulfate and amplified using methylation-specific primers. RFLP was conducted with restriction enzymes in differentially methylated regions of LIT1, H19, and IGF2.

RESULTS:

The 12 BWS patients had normal karyotypes. Abnormal methylation patterns in the BWSIC2 (LIT1) region were identified in seven patients (58.3%) using the MS-PCR RFLP method.

CONCLUSIONS:

The MS-PCR RFLP method is a simple, economical genetic test. It detected genetic abnormalities in 50-60% of BWS patients, suggesting that it can be used as a screening test. A more precise method is required, however, to enhance the detection rate of genetic abnormalities, especially in BWSIC1 region.
Asunto(s)

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Síndrome de Beckwith-Wiedemann / Polimorfismo de Longitud del Fragmento de Restricción / ADN / Pruebas Genéticas / Tamizaje Masivo / Reacción en Cadena de la Polimerasa / Cariotipo / Cariotipificación / Leucocitos / Metilación Tipo de estudio: Estudio diagnóstico / Estudio pronóstico / Estudio de tamizaje Límite: Humanos Idioma: Coreano Revista: Journal of Genetic Medicine Año: 2010 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Síndrome de Beckwith-Wiedemann / Polimorfismo de Longitud del Fragmento de Restricción / ADN / Pruebas Genéticas / Tamizaje Masivo / Reacción en Cadena de la Polimerasa / Cariotipo / Cariotipificación / Leucocitos / Metilación Tipo de estudio: Estudio diagnóstico / Estudio pronóstico / Estudio de tamizaje Límite: Humanos Idioma: Coreano Revista: Journal of Genetic Medicine Año: 2010 Tipo del documento: Artículo