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 ANDMETHODS:
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.
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
Similares
MEDLINE
...
LILACS
LIS