Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 67, Issue 1, 1996, Pages 85-91

  Petronis, Arturas ^a   Heng, Henry H Q ^b   Tatuch, Yuriy ^a   Shi, Xiao Mei ^b   Klempan, Timothy A ^a   Tsui, Lap Chee ^b   Ashizawa, Tetsuo ^e   Surh, Linda C ^c   Holden, Jeanette J A ^d   Kennedy, James L ^a  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d Ongwanada Resource Centre   (Canada)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Methods of direct detection; Unstable DNA

Indexed keywords

TRINUCLEOTIDE;

ARTICLE; CONTROLLED STUDY; DNA HYBRIDIZATION; HUMAN; MYOTONIC DYSTROPHY; NUCLEOTIDE REPEAT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TECHNIQUE;

BLOTTING, SOUTHERN; DNA; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; TRINUCLEOTIDE REPEATS;

EID: 0029964334     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960216)67:1<85::AID-AJMG15>3.0.CO;2-L     Document Type: Article

References (33)

1. Bassett AS, Honer WG (1994); Evidence for anticipation in schizophrenia. Am J Hum Genet 54:864-870.
2. Caskey TC, Pizzuti A, Fu Y-H, Fenwick RG, Nelson D (1992): Triplet repeat mutations in human disease. Science 256:784-789.
3. Cotter FE, Hampton GM, Nasipuri T, Bodmer WF, Young BD (1990): Rapid isolation of human chromosome-specific DNA probes from somatic cell hybrid. Genomics 7:257-263.
4. Cotter FE, Das S, Douek E, Carter NP, Young BD (1991): The generation of DNA probes to chromosome 11q23 by Alu PCR on small numbers of flow-sorted 22q-derivative chromosomes. Genomics 9:473-480.
5. Gindilis VM (1993): Schizophrenia, anticipation and unstable DNA repeats: whether its association is real? Psychiatr Genet 3:156.
6. Heng HHQ, Squire J, Tsui L-C (1992): High resolution mapping of mammalian genes by in situ hybridization to free chromatin. Proc Natl Acad Sci USA 89:9509-9513.
7. Heng HHQ, Tsui L-C (1993): Modes of DAPI banding and simultaneous in situ hybridization. Chromasoma 102:325-332.
8. Heng HHQ, Xiao H, Shi X-M, Greenblatt J, Tsui L-C (1994): Genes encoding general initiation factors for RNA polymerase II transcription are dispersed in the human genome. Hum Mol Genet 3:61-64.
9. Huntington's Disease Collaborative Research Group (1993): A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983.
10. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A (1994): CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221-228.
11. Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S (1994): Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13.
12. Ledbetter SA, Nelson DL, Warren ST, Ledbetter DH (1990): Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction. Genomics 6:475-481.
13. Li S-H, McInnis MG, Margolis RL, Antonarakis SE, Ross CA (1993): Novel triplet repeat containing genes in human brain: cloning, expression and length polymorphisms. Genomics 16:572-579.
14. Ludecke HJ, Senger G, Claussen U, Horsthemke B (1989): Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification. Nature 338:348-350.
15. McInnis MG, McMahon FJ, Chase GA, Simpson SG, Ross CA, DePaulo R Jr (1993): Anticipation in bipolar affective disorder. Am J Hum Genet 53:385-390.
16. Miwa S (1994): Triplet repeats strike again. Nat Genet 6:3-4.
17. Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M. Takeda T, Tadokoro K, Kondo I, Murayama N, Tanaka Y, Kikushima H, Umino K, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komure O, Takahashi M, Yoshizawa T, Kanazawa I, Yamada M (1994). Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 6:14-18.
18. Nelson DL, Ledbetter SA, Corbo L, Victoria MF, Ramirez-Solis R, Webster TD, Ledbetter DH, Caskey CT (1989): Alu polymerase chain reaction: a method for rapid isolation of human specific sequences from complex DNA sources. Proc Natl Acad Sci USA 86: 6686-6690.
19. Orr HT, Chuang MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LPW, Zoghbi HY (1993): Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221-226.
20. Penrose LS (1984): The problem of anticipation in pedigrees of dystrophia myotonica. Ann Eugen Lond 14:125-232.
21. Petronis A, Kennedy JL (1995): Unstable genes - Unstable mind? Am J Psychiatry 152:164-172.
22. Pulst S-M, Nechiporuk A, Starkman S (1993): Anticipation in spinocerebellar ataxia type 2. Nat Genet 5:8-10.
23. Richards RI, Sutherland GR (1992): Heritable unstable DNA sequences. Nat Genet 1:7-9.
24. Riggins GJ, Lokey LK, Chastain JL, Leiner HA, Sherman SL, Wilkinson KD, Warren ST (1992): Human genes containing trinucleotide repeats. Nat Genet 2:186-191.
25. Ross CA, McInnis MG, Margolis RL, Li S-H (1993): Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. TINS 16:254-260.
26. Ruano G, Lewis ME, Kouri RE (1993): Cycled primer extension. a method for amplification and labeling from templates of unknown sequence. Anal Biochem 212:1-6.
27. Saunders RD, Glover DM, Ashburner M, Siden-Kiamos I, Louis C. Monastirioti M, Savakis C, Kafatos F (1989): PCR amplification of DNA microdissected from a single polytene band: a comparison with conventional microcloning. Nucleic Acids Res 17:9027-9037.
28. Schalling M, Hudson TJ, Buetow KH, Housman DE (1993): Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 4:135-139.
29. Surh LC, Mahadevan M, Korneluk RG (1994): Analysis of trinucleotide repeats in myotonic dystrophy. In Dracopoli NC (ed): Current Protocols in Human Genetics. New York: John Wiley & Sons, Inc., pp 9.6.1-9.6.13.
30. Sutherland GR, Richards RI (1992): Dynamic mutations: a new class of mutations causing human disease. Cell 70:709-712.
31. Takiyama Y, Igarashi S, Rogaeva EA, Endo K, Rogaev EI, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M, Tsuda T, Takano H, Ikeda M, Lin C, Chi H, Kennedy JL, Lang AE, Wherrett JR, Segawa M, Nomura Y, Yuasa T, Weissenbach J, Yoshida M, Nishizawa M, Kidd KK, Tsuji S, St George-Hyslop PH (1995): Evidence for intergenerational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 4: (1137-1146).
32. Telenius H, Carter NP, Bebb CE, Nordenskjold M, Ponder BAJ, Tunnacliffe A (1992): Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics 13:718-725.
33. Zhang L, Cui X, Schmitt K, Hubert R, Navidi W, Arnheim N (1992): Whole genome amplification from a single cell: implications for genetic analysis. Proc Natl Acad Sci USA 89:5847-5851.