| Chapter title |
The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted Methylation
|
|---|---|
| Chapter number | 6 |
| Book title |
CpG Islands
|
| Published in |
Methods in molecular biology, January 2018
|
| DOI | 10.1007/978-1-4939-7768-0_6 |
| Pubmed ID | |
| Book ISBNs |
978-1-4939-7767-3, 978-1-4939-7768-0
|
| Authors |
Ana Monteagudo-Sánchez, Intza Garin, Guiomar Perez de Nanclares, David Monk |
| Abstract |
Imprinting disorders are a group of congenital diseases that can result from multiple mechanisms affecting imprinted gene dosage including cytogenetic aberration and epigenetic anomalies. Quantification of CpG methylation and correct copy-number calling is required for molecular diagnosis. Methylation-sensitive multiplex ligation-dependent probe amplification (MS-MLPA) is a multiplex method that accurately measures both parameters in a single assay. This technique relies upon the ligation of MLPA probe oligonucleotides and digestion of the genomic DNA-probe hybrid complexes with the Hha1 methylation-sensitive restriction endonuclease prior to fluorescent PCR amplification with a single primer pair. Since each targeted probe contains stuffer sequence of varying length, each interrogated position is visualized as an amplicon of different size upon capillary electrophoresis. |
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Mendeley readers
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