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Title: | Molecular diagnosis of Williams Buren syndrome in a cohort of Sri Lankan patients |
Authors: | Ranaweera, D.M. de Silva, D. Samarasinghe, D. Perera, S. Rajapaksha, N. Chandrasekharan, N.V. |
Keywords: | Molecular diagnosis |
Issue Date: | 2012 |
Publisher: | Sri Lanka Medical Association |
Citation: | Sri Lanka Medical Association, 125th International Medical Congress. 2012;57 Suppliment1: 30 |
Abstract: | INTRODUCTION: Williams Bueren Syndrome (WBS) is a common genetic cause of congenital heart defects associated with developmental delay, hypercalcaemia and characteristic facial dysmorphism. It is caused by a 1.5 to 1.8 Mb deletion of chromosome 7qll.23 involving the loss of around 23 genes including the elastin (ELN) gene. This study reports the development of a semi quantitative PCR method to diagnose WBS. AIMS: To establish a molecular diagnostic test for WBS and determine the frequency of ELN deletions among clinically suspected cases. METHODS: Sixteen suspected WBS cases identified by two paediatric cardiologists were recruited following ethical clearance and informed consent. DNA was extracted and dosage analysis was carried out using semi-quantitative PCR. In a multiplex PCR reaction normal (N), positive control (with a confirmed deletion) and patients' (PJ DNA was amplified using 2 primer pairs which amplified regions within the ELN gene and the CFTR gene on chromosome 7 but outside the deleted region. Following agarose gel electrophoresis, the amplified products were quantified. A ratio of P:N of 0.5 indicated the presence of a deletion while a ratio of 1 indicated the absence of a deletion. RESULTS: Among sixteen suspected cases, 12 (75%) had an ELN gene deletion while 4 cases did not. CONCLUSIONS: This semi-quantitative PCR method was able to distinguish ELN deleted cases from the non deleted ones. The preliminary data supports this as a useful diagnostic test for WBS but validation is required before its clinical use. |
Description: | Oral Presentation Abstract (OP 34), 125th Anniversary Scientific Medical Congress, Sri Lanka Medical Association, June 2012 Colombo, Sri Lanka |
URI: | http://repository.kln.ac.lk/handle/123456789/12368 |
ISSN: | 0009-0895 |
Appears in Collections: | Conference Papers |
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