Your browser doesn't support javascript.
loading
Genetic Diagnosis of Beckwith Wiedemann Syndrome using Methylation Specific PCR-RFLP Method
Journal of Genetic Medicine ; : 133-137, 2010.
Article in Korean | 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.
Subject(s)

Full text: Available Index: WPRIM (Western Pacific) Main subject: Beckwith-Wiedemann Syndrome / Polymorphism, Restriction Fragment Length / DNA / Genetic Testing / Mass Screening / Polymerase Chain Reaction / Karyotype / Karyotyping / Leukocytes / Methylation Type of study: Diagnostic study / Prognostic study / Screening study Limits: Humans Language: Korean Journal: Journal of Genetic Medicine Year: 2010 Type: Article

Similar

MEDLINE

...
LILACS

LIS

Full text: Available Index: WPRIM (Western Pacific) Main subject: Beckwith-Wiedemann Syndrome / Polymorphism, Restriction Fragment Length / DNA / Genetic Testing / Mass Screening / Polymerase Chain Reaction / Karyotype / Karyotyping / Leukocytes / Methylation Type of study: Diagnostic study / Prognostic study / Screening study Limits: Humans Language: Korean Journal: Journal of Genetic Medicine Year: 2010 Type: Article