Triplet-primed PCR Is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1

Genetic Testing and Molecular Biomarkers

Volumn 16, Issue 12, 2012, Pages 1428-1431

  Addis, Maria ^a   Serrenti, Marianna ^a   Meloni, Cristiana ^a   Cau, Milena ^a   Melis, Maria Antonietta ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; DISEASE SEVERITY; DNA DETERMINATION; GENE LOCUS; GENETIC SCREENING; GENOTYPE; HUMAN; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDY; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; TRIPLET PRIMED POLYMERASE CHAIN REACTION;

BLOTTING, SOUTHERN; DNA PRIMERS; HUMANS; MUTATION; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PROTEIN-SERINE-THREONINE KINASES; RETROSPECTIVE STUDIES; TRINUCLEOTIDE REPEATS;

EID: 84869457384     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2012.0218     Document Type: Article

References (14)

1. Axford MM, Lopez-Castel A, Nakamori M, et al. (2011) Replacement of the myotonic dystrophy type 1 CTG repeat with "non CTG repeat" insertions in specific tissues. J Med Genet 48:438-443.
2. Braida C, Stefanatos RK, Adam B, et al. (2010) Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol Genet 19:1399-1412.
3. Brook JD, McCurrach ME, Harley HG, et al. (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3¢ end of a transcript a protein kinase family member. Cell 68:799-808.
4. Fu YH, Pizzuti A, Fenwick RG, Jr., et al. (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256-1258.
5. Gennarelli M, Pavoni M, Amicucci P, et al. (1998) A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy. Diagn Mol Pathol 7:135-137.
6. Kakourou G, Dhanjal S, Mamas T et al. (2010) Modification of the triple repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: application in preimplantation genetic diagnosis. Fertil Steril 94:1674-1679.
7. Leeflang EP, Arnheim N (1995) A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability. Hum Mol Genet 4:135-136.
8. Mahadevan M, Tsilfidis C, Sabourin L, et al. (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3¢ untranslated region of the gene. Science 255:1253-1255.
9. Musova Z, Mazanec R, KrepelovaA, et al. (2009) Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene. Am J Med Genet A 149A:1365-1374.
10. Radvansky J, Ficek A, Kadasi L (2011a) Upgrading molecular diagnostics of myotonic dystrophies: multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs. Mol Cell Probes 25:182-185.
11. Radvansky J, Ficek A, Minarik G, et al. (2011b) Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing. Diagn Mol Pathol 20:48-51.
12. Salehi LB, Bonifazi E, Stasio ED, et al. (2007) Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2650 patients. Genet Test 11:84-90.
13. The International Myotonic Dystrophy Consortium (2000) New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC). Neurology 54:1218-1221.
14. Warner JP, Barron LH, Goudie D, et al. (1996) A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 33:1022-1026.