Detection and Discrimination between Deletional and Non-Deletional Prader-Willi and Angelman Syndromes by Methylation-Specific PCR and Quantitative Melting Curve Analysis

The Journal of Molecular Diagnostics - Tập 11 - Trang 446-449 - 2009
Wen Wang1, Hai-Yang Law2, Samuel S. Chong1,3,4
1Children's Medical Institute, Department of Laboratory Medicine, National University Hospital, Singapore
2DNA Diagnostic and Research Laboratory, Department of Pediatric Medicine, KK Women's & Children's Hospital, Singapore
3Molecular Diagnosis Center, Department of Laboratory Medicine, National University Hospital, Singapore
4Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore

Tài liệu tham khảo

Jiang, 1998, Imprinting in Angelman and Prader-Willi syndromes, Curr Opin Genet Dev, 8, 334, 10.1016/S0959-437X(98)80091-9 Nicholls, 1998, Imprinting in Prader-Willi and Angelman syndromes, Trends Genet, 14, 194, 10.1016/S0168-9525(98)01432-2 Diagnostic testing for Prader-Willi and Angleman syndromes, 1996, Report of the ASHG/ACMG Test and Technology Transfer Committee, Am J Hum Genet, 58, 1085 Zeschnigk, 1997, Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method, Hum Mol Genet, 6, 387, 10.1093/hmg/6.3.387 Buller, 2000, Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes, Mol Diagn, 5, 239, 10.2165/00066982-200005030-00011 Kosaki, 1997, Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method, Am J Med Genet, 73, 308, 10.1002/(SICI)1096-8628(19971219)73:3<308::AID-AJMG15>3.0.CO;2-N Kubota, 1997, Methylation-specific PCR simplifies imprinting analysis, Nat Genet, 16, 16, 10.1038/ng0597-16 Martinez, 2006, Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes, Genet Test, 10, 174, 10.1089/gte.2006.10.174 Bittel, 2007, Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities, Genet Test, 11, 467, 10.1089/gte.2007.0061 Nygren, 2005, Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences, Nucleic Acids Res, 33, e128, 10.1093/nar/gni127 Dikow, 2007, Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA, Mol Cell Probes, 21, 208, 10.1016/j.mcp.2006.12.002 White, 2006, Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome, Clin Chem, 52, 1005, 10.1373/clinchem.2005.065086 White, 2007, Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes, Clin Chem, 53, 1960, 10.1373/clinchem.2007.093351 Procter, 2006, Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification, Clin Chem, 52, 1276, 10.1373/clinchem.2006.067603 Worm, 2001, In-tube DNA methylation profiling by fluorescence melting curve analysis, Clin Chem, 47, 1183, 10.1093/clinchem/47.7.1183 Cardoso, 2003, Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p133, Am J Hum Genet, 72, 918, 10.1086/374320 Bi, 2009, Increased LIS1 expression affects human and mouse brain development, Nat Genet, 41, 168, 10.1038/ng.302