Consensus characterization of 16 FMR1 reference materials: A consortium study

Journal of Molecular Diagnostics

Volumn 10, Issue 1, 2008, Pages 2-12

  Wilson, Jean Amos ^a   Pratt, Victoria M ^b   Phansalkar, Amit ^c   Muralidharan, Kasinathan ^b,d   Highsmith Jr , W Edward ^e   Beck, Jeanne C ^f   Bridgeman, Scott ^g   Courtney, Ebony M ^d,m   Epp, Lidia ^h   Ferreira Gonzalez, Andrea ^h   Hjelm, Nick L ^d   Holtegaard, Leonard M ^e   Jama, Mohamed A ^c   Jakupciak, John P ^i,p   Johnson, Monique A ^j   Labrousse, Paul ^l   Lyon, Elaine ^c,l   Prior, Thomas W ^g   Richards, C Sue ^j   Richie, Kristy L ⁱ   Roa, Benjamin B ^m,q   Rohlfs, Elizabeth M ^k   Sellers, Tina ^f,r   Sherman, Stephanie L ^d   Siegrist, Karen A ^n,o   Silverman, Lawrence M ^n,o   Wiszniewska, Joanna ^m   Kalman, Lisa V ^l   Bossler, Aaron ^s   Dillon, Deborah ^s   Dolan, Michelle ^s   Gastier Foster, Julie ^s   Jones, Dan ^s   Sepulveda, Antonia ^s   Stellrecht, Kathleen ^s   Wolff, Daynna A ^s   more..

^a SEQUENOM INC   (United States)

^b QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^c ARUP LABORATORIES   (United States)

^d EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e MAYO CLINIC   (United States)

^f Laboratory of Molecular and Cellular Biology of Hematopoiesis   (United States)

^g OHIO STATE UNIVERSITY   (United States)

^h VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

ⁱ NATIONAL INSTITUTE OF STANDARDS AND TECHNOLOGY   (United States)

^j OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^k Genzyme Genetics   (United States)

^l UNIVERSITY OF UTAH   (United States)

^m BAYLOR COLLEGE OF MEDICINE   (United States)

ⁿ UNIVERSITY OF VIRGINIA HEALTH SYSTEM   (United States)

^o CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^p Cipher Systems   (United States)

^q Myriad Genetic Laboratories   (United States)

^r Amicus Therapeutics   (United States)

^s NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; REPETITIVE DNA;

ALLELE; ARTICLE; ATAXIA; BEHAVIOR DISORDER; CLINICAL LABORATORY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DNA DETERMINATION; DNA PURIFICATION; FACTUAL DATABASE; FRAGILE X SYNDROME; GENDER; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; OVARY INSUFFICIENCY; PATHOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; PUBLIC HEALTH SERVICE; QUALITY CONTROL; TREMOR; VALIDATION PROCESS;

EID: 38749149609     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2008.070105     Document Type: Article

References (21)

1. Sherman SL: Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000, 97:189-194
2. Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001, 57:127-130
3. Hagerman RJ, Hagerman PJ: The fragile X permutation: into the phenotypic fold. Curr Opin Genet Dev 2002, 12:278-283
4. Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ: Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003, 72:869-878
5. Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ: Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004, 291:460-469
6. Strom CM, Huang D, Li Y, Hantash FM, Rooke J, Potts SJ, Sun W: Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome. Genet Med 2007, 9:199-207
7. Emons H, Fajgelj A, van der Veen AMH, Watters R: New definitions on reference materials. Accred Qual Assur 2006, 10:576-578
8. O'Connell C, Atha DH, Jakupciak JP, Amos JA, Richie KL: Standardization of PCR amplification for fragile X trinucleotide repeat measurements. Clin Genet 2002, 61:13-20
9. Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT: Genetically characterized positive control cell lines derived from residual clinical blood samples. Clin Chem 2005, 51:2013-2024
10. Chong SS, Eichler EE, Nelson DL, Highes MR: Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet 1994, 51:522-526
11. Pergolizzi RG, Erster SH, Goonewardena P, Brown WT: Detection of full fragile X mutation. Lancet 1992, 339:271-272
12. Wang Q, Green D, Bobrow M, Matthew CG: A rapid non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. J Med Genet 1995, 32:170-173
13. Tarlton J: Detection of FMR1 trinucleotide repeat expansion mutations using Southern blot and PCR methodologies. Neurogenetics: Methods and Protocols (Methods in Molecular Biology, vol. 217). Edited by Potter N. Totowa NJ. Humana Press Inc, 2003, pp 29-39
14. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Eussen BE, van Ommen G-J B, Blonden LAJ, Riggens GJ, Chastain JL, Kunst CB, Gaijarrd H, Caskey CT, Nelson DL, Oostra BA, Warren ST: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991, 65:905-914
15. Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr., Warren ST, Oostra BA, Nelson DL, Caskey CT: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991, 67:1047-58
16. Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL: Instability of as 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991, 252:1097-1102
17. Allex CF, Shavlik JW, Blattner FR: Neural network input representations that produce accurate consensus sequences from DNA fragment assemblies. Bioinformatics 1999, 15:723-728
18. Nolin SL, Brown WT, Glicksman A, Houck GE Jr., Gargano AD, Sullivan A, Biancalana V, Brondum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Vaisanen ML, von Koskull H, Sherman SL: Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003, 72:454-464
19. Manley K, Pugh J, Messer A: Instability of the CAG repeat in immortalized fibroblast cell cultures from Huntington's disease transgenic mice. Brain Res 1999, 835:74-79
20. Gomes-Pereira M, Fortune MT, Monckton DG: Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates. Hum Mol Genet 2001, 10:845-854
21. Williams LO, Cole EC, Lubin IM, Iglesias NI, Jordan RL, Elliot LE: Quality assurance in human molecular genetics testing- status and recommendations. Arch Pathol Lab Med 2003, 127:1353-1358