Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing

Journal of Molecular Diagnostics

Volumn 15, Issue 4, 2013, Pages 518-525

  Kalman, Lisa ^a   Tarleton, Jack ^b   Hitch, Monica ^b   Hegde, Madhuri ^c   Hjelm, Nick ^c   Berry Kravis, Elizabeth ^d   Zhou, Lili ^d   Hilbert, James E ^e   Luebbe, Elizabeth A ^e   Moxley III, Richard T ^e   Toji, Lorraine ^f  

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

^b Mission Hospital   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d RUSH UNIVERSITY MEDICAL CENTER   (United States)

^e UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MYOTONIC DYSTROPHY PROTEIN KINASE;

ALLELE; ARTICLE; CELL LINE; CLINICAL GENETICS; CONTROLLED STUDY; GENETIC SCREENING; HUMAN; HUMAN CELL; MYOTONIC DYSTROPHY; NUCLEOTIDE REPEAT; POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

ALLELES; CELL LINE; DNA; GENETIC TESTING; HUMANS; MYOTONIC DYSTROPHY; PROTEIN-SERINE-THREONINE KINASES; REFERENCE STANDARDS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84879284536     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2013.03.008     Document Type: Article

References (29)

1. P.S. Harper Myotonic Dystrophy 2001 Saunders Co London, W.B
2. T.W. Prior American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee Technical standards and guidelines for myotonic dystrophy type I testing Genet Med 11 2009 552 555
3. T.D. Bird Myotonic Dystrophy Type 1 GeneReviews [Internet] 1993 2012 Copyright University of Washington Seattle Available at http://www.ncbi.nlm.nih. gov/books/NBK1499 last revised February 8, 2011
4. J.D. Brook, M.E. McCurrach, H.G. Harley, A.J. Buckler, D. Church, H. Aburatani, K. Hunter, V.P. Stanton, J.P. Thirion, and T. Hudson Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member Cell 68 1992 799 808
5. Y.H. Fu, A. Pizzuti, R.G. Fenwick Jr., J. King, S. Rajnarayan, P.W. Dunne, J. Dubel, G.A. Nasser, T. Ashizawa, P. de Jong, B. Wieringa, R. Korneluk, M.B. Perryman, H.F. Epstein, and C.T. Caskey An unstable triplet repeat in a gene related to myotonic muscular dystrophy Science 255 1992 1256 1258
6. M. Mahadevan, C. Tsilfidis, L. Sabourin, G. Shutler, C. Amemiya, G. Jansen, C. Neville, M. Narang, J. Barceló, K. O'Hoy, S. Leblond, J. Earle-Macdonald, P.J. de Jong, B. Wieringa, and R.G. Korneluk Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene Science 255 1992 1253 1255
7. H.G. Harley, J.D. Brook, S.A. Rundle, S. Crow, W. Reardon, A.J. Buckler, P.S. Harper, D.E. Housman, and D.J. Shaw Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy Nature 355 1992 545 546
8. C. Tsilfidis, A.E. MacKenzie, G. Mettler, J. Barceló, and R.G. Korneluk Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy Nat Genet 1 1992 192 195
9. A. Hunter, C. Tsilfidis, G. Mettler, P. Jacob, M. Mahadevan, L. Surh, and R. Korneluk The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy J Med Genet 29 1992 774 779
10. R.T. Moxley, and G. Meola The Myotonic Dystrophies. The Molecular and Genetic Basis of Neurologic and Psychiatric Disease R.N. Rosenberg, S. DiMauro, H.L. Paulson, L. Ptacek, E.J. Nestler, 2008 Wolters Kluwer Philadelphia 532 541
11. T. Ashizawa, J.R. Dubel, and Y. Harati Somatic instability of CTG repeat in myotonic dystrophy Neurology 43 1993 2674 2678
12. M. Anvret, G. Ahlberg, U. Grandell, B. Hedberg, K. Johnson, and L. Edström Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy Hum Mol Genet 2 1993 1397 1400
13. C.A. Thornton, K. Johnson, and R.T. Moxley III Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes Ann Neurol 35 1994 104 107
14. International Organization for Standardization ISO 15189 Medical Laboratories: Particular Requirements for Quality and Competence 2007 International Organization for Standardization Geneva
15. Centers for Medicare and Medicaid Services, US Department of Health and Human Services: Part 493 - Laboratory Requirements: Clinical Laboratory Improvement Amendments of 1988. 42 CFR §493.1443-1495
16. B. Chen, M. Gagnon, S. Shahangian, N.L. Anderson, D.A. Howerton, and D.J. Boone Good laboratory practices for molecular genetic testing for heritable diseases and conditions MMWR Morb Mortal Wkly Rep 58 2009 1 29
17. Association for Molecular Pathology statement: recommendations for in-house development and operation of molecular diagnostic tests Am J Clin Pathol 111 1999 449 463
18. B. Chen, C.D. O'Connell, D.J. Boone, J.A. Amos, J.C. Beck, and M.M. Chan Developing a sustainable process to provide quality control materials for genetic testing Genet Med 7 2005 534 549
19. CLSI. Molecular Methods for Clinical Genetics and Oncology Testing; Approved Guideline-Third Edition CLSI document MM01-A3. Wayne, PA: Clinical and Laboratory Standards Institute; 2012
20. Clinical and Laboratory Standards Institute Verification and Validation of Multiplex Nucleic Acid Assays; Approved Guideline, MM17-A 2008 Clinical and Laboratory Standards Institute Wayne, PA
21. J.E. Hilbert, J.T. Kissel, E.A. Luebbe, W.B. Martens, M.P. McDermott, D.B. Sanders, R. Tawil, C.A. Thornton, R.T. Moxley III Registry Scientific Advisory Committee If you build a rare disease registry, will they enroll and will they use it? methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) Contemp Clin Trials 33 2012 302 311
22. L. Kalman, J. Leonard, N. Gerry, J. Tarleton, C. Bridges, J.M. Gastier-Foster, R.E. Pyatt, E. Stonerock, M.A. Johnson, S. Richards, I. Schrijver, T. Ma, V. Rangel Miller, Y. Adadevoh, P. Furlong, C. Beiswanger, and L. Toji Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel J Mol Diagn 13 2011 167 174
23. J.C. Beck, C.M. Beiswanger, E.M. John, E. Satraiano, and D. West Successful transformation of cryopreserved lymphocytes: a resource for epidemiological studies Cancer Epidemiol Biomarkers Prev 10 2001 551 554
24. S.H. Bernacki, A.K. Stankovic, L.O. Williams, J.C. Beck, J.E. Herndon, K. Snow-Bailey, T.W. Prior, K.J. Matteson, L.M. Wasserman, E.C. Cole, and T.T. Stenzel Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing J Mol Diagn 5 2003 227 230
25. S.A. Miller, D.D. Dykes, and H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 16 1988 1215
26. J. Buxton, P. Shelbourne, J. Davies, C. Jones, T. Van Tongeren, C. Aslanidis, P. de Jong, G. Jansen, M. Anvret, and B. Riley Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy Nature 355 1992 547 548
27. A. Pizzuti, D.L. Friedman, and T.C. Caskey The myotonic dystrophy gene Arch Neurol 50 1993 1173 1179
28. L. Martorell, D.G. Monckton, J. Gamez, K.J. Johnson, I. Gich, A. Adolfo Lopez de Munain, and M. Baiget Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients Hum Mol Genet 7 1998 307 312
29. CAP/ACMG Biochemical and Molecular Genetics Committee CAP/ACMG Molecular Genetics Participant Summary Reports: Survey MGL 2010 2011 College of American Pathologists Northfield, IL