A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP

European Journal of Human Genetics

Volumn 11, Issue 2, 2003, Pages 170-178

  Thiel, Christian T ^a   Kraus, Cornelia ^a   Rauch, Anita ^a   Ekici, Arif B ^a   Rautenstrauss, Bernd ^a   Reis, André ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

CMT1A; HMSN; HNPP; Neuropathy; Quantitative assay; Real time PCR

Indexed keywords

ALBUMIN; MYELIN PROTEIN; REPETITIVE DNA;

ALLELE; ARTICLE; CHROMOSOME 17P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CONTROLLED STUDY; DEMYELINATING DISEASE; DNA FLANKING REGION; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENE NUMBER; GENE PROBE; GENETIC POLYMORPHISM; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; QUANTITATIVE ASSAY; RETROSPECTIVE STUDY; SAMPLING; SCORING SYSTEM; SENSITIVITY ANALYSIS; TANDEM REPEAT;

BIOLOGICAL ASSAY; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES, HUMAN, PAIR 17; GENE DOSAGE; GENE DUPLICATION; HUMANS; PARALYSIS; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 0037299356     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200920     Document Type: Article

References (36)

1. Lupski JR, de Oca-Luna RM, Slaugenhaupt S et al: DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991; 66: 219-232.
2. Chance PF, Alderson MK, Leppig KA et al: DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993; 72: 143-151.
3. Chance PF, Pleasure D: Charcot-Marie-Tooth syndrome. Arch Neurol 1993; 50: 1180-1184.
4. Chance PF, Abbas N, Lensch MW et al: Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994; 3: 223-228.
5. Inoue K, Dewar K, Katsanis N et al: The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res 2001; 11: 1018-1033.
6. Skre H: Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974; 6: 98-118.
7. Patel PI, Roa BB, Welcher AA et al: The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992; 1: 159-165.
8. Timmerman V, Nelis E, Van Hul W et al: The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1992; 1: 171-175.
9. Wise CA, Garcia CA, Davis SN et al: Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet 1993; 53: 853-863.
10. Nelis E, Van Broeckhoven C, De Jonghe P et al: Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996; 4: 25-33.
11. Lupski JR: Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol Med 1998; 4: 3-11.
12. Lupski JR, Wise CA, Kuwano A et al: Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992; 1: 29-33.
13. Matsunami N, Smith B, Ballard L et al: Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet 1992; 1: 176-179.
14. Valentijn LJ, Bolhuis PA, Zorn I et al: The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1992; 1: 166-170.
15. Raeymaekers P, Timmerman V, Nelis E et al: Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1991; 1: 93-97.
16. MacMillan JC, Harper PS: The Charcot-Marie-Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests. Clin Genet 1992; 42: 161-163.
17. Raeymaekers P, Timmerman V, Nelis E et al: Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. J Med Genet 1992; 29: 5-11.
18. Lupski JR: DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies. Clin Chem 1996; 42: 995-998.
19. Liehr T, Rautenstrauss B, Grehl H et al: Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. Hum Genet 1996; 98: 22-28.
20. Roa BB, Greenberg F, Gunaratne P et al: Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy. Hum Genet 1996; 97: 642-649.
21. Shaffer LG, Kennedy GM, Spikes AS et al: Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet 1997; 69: 325-331.
22. Haupt A, Schols L, Przuntek H et al: Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions. Hum Genet 1997; 99: 688-691.
23. Yamamoto M, Keller MP, Yasuda T et al: Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat. Hum Mutat 1998; 11: 109-113.
24. Stronach EA, Clark C, Bell C et al: Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. J Peripher Nerv Syst 1999; 4: 117-122.
25. Navon R, Timmerman V, Lofgren A et al: Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. Prenat Diagn 1995; 15: 633-640.
26. Timmerman V, Rautenstrauss B, Reiter LT et al: Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet 1997; 34: 43-49.
27. Seeman P, Mazanec R, Zidar J et al: Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs. Int J Mol Med 2000; 6: 421-426.
28. Latour P, Boutrand L, Levy N et al: Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication. Clin Chem 2001; 47: 829-837.
29. Bieche I, Olivi M, Champeme MH et al: Novel approach to quantitative polymerase chain reaction using real-time detection: application to the detection of gene amplification in breast cancer. Int J Cancer 1998; 78: 661-666.
30. Wang SC, Klein RD, Wahl WL et al: Tissue coexpression of LBP and CD14 mRNA in a mouse model of sepsis. J Surg Res 1998; 76: 67-73.
31. Bassler HA, Flood SJ, Livak KJ et al: Use of a fluorogenic probe in a PCR-based assay for the detection of Listeria monocytogenes. Appl Environ Microbiol 1995; 61: 3724-3728.
32. Wilke K, Duman B, Horst J: Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR. Hum Mutat 2000; 16: 431-436.
33. Aarskog NK, Vedeler CA: Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 2000; 107: 494-498.
34. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
35. Heid CA, Stevens J, Livak KJ et al: Real time quantitative PCR. Genome Res 1996; 6: 986-994.
36. Lie YS, Petropoulos CJ: Advances in quantitative PCR technology: 5′ nuclease assays. Curr Opin Biotechnol 1998; 9: