The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization

Cytogenetics and Cell Genetics

Volumn 72, Issue 1, 1996, Pages 95-98

  Leppig, K A ^a   Viskochil, D ^c   Neil, S ^c   Rubenstein, A ^d   Johnson, V P ^e   Zhu, X L ^c   Brothman, A R ^c   Stephens, K ^a,b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF SOUTH DAKOTA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; HUMAN CELL; NEUROFIBROMATOSIS; PRIORITY JOURNAL;

CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; GENES, NEUROFIBROMATOSIS 1; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; NEUROFIBROMATOSIS 1; RESTRICTION MAPPING; SYNDROME;

EID: 0030057034     PISSN: 03010171     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000134171     Document Type: Article

References (21)

1. Chance PF, Alderson MK, Lcppig KA, Lensch MW, Malsunami N, Smithe B, Swanson PD, Odelberg SJ, Disleche CM, Bird TD: DNA deletion associated with hereditary neuropathy with liability to pressure palsies, Cell 72:143-151 (1993).
2. Fain PR, Goldgar DE, Wallace MR, Collins FS, Wright E, Nguyen K, Barker DF: Refined physical and genetic mapping of the NFI region of chromosome 17, Am J hum Genet 45:721-728 (1989).
3. Goldgar DE, Green P, Parry DM, Mulvihill JJ: Multipoint linkage analysis in neurofibromatosis type I: an international collaboration, Am J hum Genet 44:6-12 (1989).
4. Fluson SM, Harper PS, Compston DAS: Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales, Brain 111:1355-1381 (1988).
5. Jorde LB, Watkins WS, Viskochil D, O'Connell P, Ward K: Linkage disequilibrium in the neurofibromatosis I (NFI) region: implications for gene mapping, Am J hum Genet 53:1038-50 (1993).
6. Kayes LM, Burke W, Riccardi VM, Bennett RL, Ehr-lick P, Rubenstein A, Stephens K: Deletions spanning the neurofibromatosis I gene: identification and phenotype of five patients, Am J hum Genet 54:424-436 (1994).
7. Kayes LM, Riccardi VM, Burke W, Bennett RL, Stephens K: Large dc novo DN'A deletion in a patient with sporadic neurofibromatosis, mental retardation and dysmorphism, J med Genet 29:686-690 (1992).
8. Ledbetter DH, Rich DC, O'Connell P, Leppert M, Carey JC: Precise localization of NFI to 17q11.2 by balanced translocation, Am J hum Genet 44:20-4 (1989).
9. Lcppig KA, Viskochil D, Kaplan P, Stephens KG: Is NF-I gene deletion the molecular mechanism of neurofibromatosis type I with distinctive facies? Am J hum Genet 55:A229 (1994).
10. Li Y, O'connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D: Genomic organization of the neurofibromatosis 1 gene, Genomics 25:9-18 (1995).
11. Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutman DH, Boguski M, Collins FS: cDNA cloning of the type I neurofibromatosis gene: complete sequence of the NFI gene product, Genomics 11:931-940 (1991).
12. Marchuk DA, Tavakkol R, Wallace MR, Brownstein BH, Taillon-Miller P, Fong C-T, Lcgius E, Andersen LB, Glover TW, Collins FS: A yeast artificial chromosome contig encompassing the type I neurofibromatosis gene, Genomics 13:672-680 (1992).
13. McKusick VA: Catalogs of autosomal dominant autosomal recessive and X-linked phenotypes, in McKusick VA: Mendelian Inheritance in Man, 10th Ed, p 326 (Johns Hopkins University Press, Baltimore 1992).
14. Menon AG, Ledbetter DH, Rich DC, Seizinger BR, Rouleau GA, Michels VF, Schmidt MA, Dewald G, Dalla Torre CM, Haines JL, Gusella JF: Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17, Genomics 5:245-249 (1989).
15. Stumpf S, Alksne JF, Annegers JF, Brown SS, Conneal-Iv PM, Housman D, Leppert MF, Miller JP, Moss ML, Pileggi AJ, Rapin I, Slrohman RC, Swanson LW, Zimmerman A: Neurofibromatosis Conference statement, Archs Neurol 45:575-578 (1988).
16. Tafill T, Trepel R, Rubinstein A, Wallaces W, Handelsman J: Dyschondrosteosis (Madelung's deformity) associated with von Recklinghausen neurofibromatosis (VRNF): extension of the spectrum of dysplastic phenomena associated with NF, Neurology 37 (Suppl 1):204 (1987).
17. Upadhyaya M, Shaw DJ, Harper PS: Molecular basisof neurofibromatosis type I (NFI): mutation analysis and polymorphisms in the NFI gene, Hum Mutal 4:83-101 (1994).
18. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, While R, O'connell P: Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus, Cell 62:187-192 (1990).
19. Viskochil D, Carey JC: Nosological considerations of the neurofibromatoses, J Dermatol 19:873-880 (1992).
20. Viskochil D, Cawthon R, O'Connell P, Xu G, Stevens J, Culver M, Carey J, White R: The gene encoding the oligodcndrocyte-myelin gly coprotein is embedded within the neurofibromatosis type I gene, Mol Cell Biol 11:906-912 (1991).
21. Xu G-F, Nelson L, O'Connell P, White R: An Alu polymorphism intragenic to the neurofibromatosis type I gene (NFI), Nucl Acids Res 19:3764 (1991).