Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers

Journal of the Peripheral Nervous System

Volumn 2, Issue 4, 1997, Pages 319-322

  Rautenstrauss, Bernd ^a,c   Fuchs, Christina ^a   Liehr, Thomas ^a   Grehl, Holger ^a   Murakami, Tatsufumi ^b   Lupski, James R ^b  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

CMT1A duplication; CMT1A REP element; HNPP deletion

Indexed keywords

ARTICLE; CHROMOSOME; COSMID; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; ULTRASTRUCTURE;

CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES; COSMIDS; GENE DUPLICATION; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE;

EID: 0031290534     PISSN: 10859489     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Wise CA, Garcia CA, Davis SN, Zhang H, Pentao L, Patel PI, Lupski JR: Molecular analysis of unrelated Charcot-Marie-Tooth disease patients suggest a high frequency of the CMT1A duplication. Am. J. Hum. Genet. 1993; 53:853-863.
2. Nelis E, Van Broeckhoven C, and coauthors: 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.
3. Patel PI, Lupski JR: Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet. 1994; 10:128-133.
4. Lupski J, Wise C, Kuwano A, Pentao L, Parker J, Glaze D, Ledbetter D, Greenberg F, Patel PI: Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nature Genet. 1992; 1:29-33.
5. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR: Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet. 1992; 2:292-300.
6. Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR: Two autosomal dominant neuropathies result from reciprocal DNA duplication/ deletion of a region on chromosome 17. Hum. Mol. Genet. 1994; 3:223-228.
7. Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR: A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nature Genet. 1996; 12:288-297.
8. Murakami T, Lupski JR: A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics 1996; 34:128-133.
9. Heiskanen M, Peltonen L, Paloti A: Visual mapping by high resolution FISH. Trends Genet. 1996; 12:379-382.
10. Fuchs C, Liehr T, Rautenstrauss B: High resolution FISH of stretched chromosome fibers. Trends Genet. 1997; 13: Technical Tips Online No. T01114.
11. Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U: The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet. 1992; 1:159-165.
12. Liehr T, Thoma K, Kammler K, Gehring C, Grehl H, Ekici A, Bathke KD, Rautenstrauss B: Direct preparation of uncultured EDTA-treated or heparinized blood for interphase FISH-analysis. Appl. Cytogenet. 1995; 21:185-188.
13. Liehr T, Rautenstrauss B, Grehl H, Bathke KD, Ekici A, Rauch A, Rott HD: Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. Hum. Genet. 1996; 99:22-28.