MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting
Tóm tắt
Từ khóa
Tài liệu tham khảo
Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K: Prevalence of carriers of premutation-size alleles of the FMRI gene-and implications for the population genetics of the fragile X syndrome. Am J Hum Genet. 1995, 57: 1006-1018.
Song FJ, Barton P, Sleightholme V, Yao GL, Fry-Smith A: Screening for fragile X syndrome: a literature review and modelling study. Health Technol Assess. 2003, 7 (16): 1-106.
Hagerman PJ: The fragile X prevalence paradox. J Med Genet. 2008, 45: 498-499. 10.1136/jmg.2008.059055.
Oostra BA, Willemsen R: FMR1: a gene with three faces. Biochim Biophys Acta. 2009, 1790: 467-477. 10.1016/j.bbagen.2009.02.007.
Saluto A, Brussino A, Tassone F, Arduino C, Cagnoli C, Pappi P, Hagerman P, Migone N, Brusco A: An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. J Mol Diagn. 2005, 7: 805-812.
Monaghan KG, Lyon E, Spector EB: ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med. 2013, 15 (7): 575-586. 10.1038/gim.2013.61.
Chen L, Hadd A, Sah S, Filipovic-Sadic S, Krosting J, Sekinger E, Pan R, Hagerman PJ, Stenzel TT, Tassone F, Latham GJ: An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for Southern blot analysis. J Mol Diagn. 2010, 12: 589-600. 10.2353/jmoldx.2010.090227.
Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, Hagerman PJ, Stenzel TT, Hadd AG, Latham GJ, Tassone F: A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem. 2010, 56 (3): 399-408.
Gatta V, Antonucci I, Morizio E, Palka C, Fischetto R, Mokini V, Tumini S, Calabrese G, Stuppia L: Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. J Hum Genet. 2007, 52 (1): 21-27.
Stuppia L, Antonucci I, Palka G, Gatta V: Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. Int J Mol Sci. 2012, 13 (3): 3245-3276.
Veschi S, Aceto G, Scioletti AP, Gatta V, Palka G, Cama A, Mariani-Costantini R, Battista P, Calò V, Barbera F, Bazan V, Russo A, Stuppia L: High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. Ann Oncol. 2007, 18 (Suppl 6): 86-92.
Colosimo A, Gatta V, Guida V, Leodori E, Foglietta E, Rinaldi S, Cappabianca MP, Amato A, Stuppia L, Dallapiccola B: Application of MLPA assay to characterize unsolved α-globin gene rearrangements. Blood Cells Mol Dis. 2011, 46 (2): 139-144. 10.1016/j.bcmd.2010.11.006.
Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, Guanciali Franchi P, Calabrese G, Uncini A, Stuppia L: Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet. 2005, 117 (1): 92-98. 10.1007/s00439-005-1270-7.
Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, Driscoll DJ: Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet. 2012, 20 (3): 283-290. 10.1038/ejhg.2011.187.
Cavani S, Prontera P, Grasso M, Ardisia C, Malacarne M, Gradassi C, Cecconi M, Mencarelli A, Donti E, Pierluigi M: FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother. Am J Med Genet. 2011, 155: 221-224. 10.1002/ajmg.a.33515.
Nygren AOH, Lens SI, Carvalho R: Methylation-specific multiplex ligation-dependent. Probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles. J Mol Diagn. 2008, 10: 496-501. 10.2353/jmoldx.2008.080053.
Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette MF: Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med. 1991, 325: 1673-1681. 10.1056/NEJM199112123252401.
Abdool A, Donahue AC, Wohlgemuth JG, Yeh CH: Detection, analysis and clinical validation of chromosomal aberrations by multiple ligation-dependent probe amplification in chronic leukemia. PLoS One. 2010, 5 (10): e15407-10.1371/journal.pone.0015407.
Chen L, Hadd AG, Sah S, Houghton JF, Filipovic-Sadic S, Zhang W, Hagerman PJ, Tassone F, Latham GJ: High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. Genet Med. 2011, 13 (6): 528-538. 10.1097/GIM.0b013e31820a780f.