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 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.
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