Genetic Diagnosis of Beckwith Wiedemann Syndrome using Methylation Specific PCR-RFLP Method
Journal of Genetic Medicine
; : 133-137, 2010.
Article
de Ko
| WPRIM
| ID: wpr-6883
Bibliothèque responsable:
WPRO
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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Syndrome de Beckwith-Wiedemann
/
Polymorphisme de restriction
/
ADN
/
Dépistage génétique
/
Dépistage de masse
/
Réaction de polymérisation en chaîne
/
Caryotype
/
Caryotypage
/
Leucocytes
/
Méthylation
Type d'étude:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limites du sujet:
Humans
langue:
Ko
Texte intégral:
Journal of Genetic Medicine
Année:
2010
Type:
Article