Comparing Two Diagnostic Laboratory Tests for Several Microdeletions Causing Mental Retardation Syndromes: Multiplex Ligation-Dependent Amplification vs Fluorescent In Situ Hybridization
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초록
Background : Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith- Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. Methods : We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome). Results : The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes. Conclusions : On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes.
Abstract
Background : Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith- Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. Methods : We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome). Results : The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes. Conclusions : On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes.
참고문헌 (13)
- Kirchhoff M, "MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions", Eur J Med Genet, 50, pp.33~42 (2007)
- Hunter AG, "Outcome of the routine assessment of patients with mental retardation in a genetics clinic", Am J Med Genet, 90, pp.60~68 (2000)
- Sellner LN, "MLPA and MAPH: new techniques for detection of gene deletions", Hum Mutat, 23, pp.413~419 (2004)
- Rusu C, "MLPA technique-principles and use in practice", Rev Med Chir Soc Med Nat Iasi, 111, pp.1001~1004 (2007)
- Rauch A, "Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation", Am J Med Genet A, 140, pp.2063~2074 (2006)
- Flint J, "The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation", Curr Opin Genet Dev, 13, pp.310~316 (2003)
- Shaffer LG, "A cytogeneticist's perspective on genomic microarrays", Hum Reprod Update, 10, pp.221~226 (2004)
- Wehner M, "Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes", Eur J Hum Genet, 13, pp.983~986 (2005)
- Armour JA, "Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats", Nucleic Acids Res, 35, pp.e19~ (2007)
- White SJ, "Variation of CNV distribution in five different ethnic populations", Cytogenetic Genome Res, 118, pp.19~30 (2007)
- Janssen B, "MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls", Neurogenetics, 6, pp.29~35 (2005)
- Redon R, "Global variation in copy number in the human genome", Nature, 444, pp.444~454 (2006)
- Shaikh TH, "Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis", Hum Mol Genet, 9, pp.489~501 (2000)