Anticipation is not associated with CAG repeat expansion in parent- offspring pairs of patients affected with schizophrenia

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 88, Issue 1, 1999, Pages 50-56

  Martorell, Lourdes ^a   Pujana, Miguel A ^d   Valero, Joaquín ^a   Joven, Jorge ^b   Volpini, Víctor ^d   Labad, Antonio ^a   Estivill, Xavier ^d   Vilella, Elisabet ^a,b,c  

^a UNIVERSITAT ROVIRA I VIRGILI   (Spain)

^b HOSPITAL UNIVERSITARI SANT JOAN DE REUS   (Spain)

^c IISPV   (Spain)

^d NONE

Author keywords

Anticipation; CAG repeat expansion; Schizophrenia

Indexed keywords

ANTICIPATION; ARTICLE; DISEASE TRANSMISSION; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; ONSET AGE; PRIORITY JOURNAL; PROGENY; SCHIZOPHRENIA; TRINUCLEOTIDE REPEAT;

ADULT; AGE OF ONSET; ANTICIPATION, GENETIC; FAMILY HEALTH; FEMALE; HUMANS; MALE; MODELS, STATISTICAL; PEDIGREE; PHENOTYPE; SCHIZOPHRENIA; SEQUENCE ANALYSIS, DNA; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0033524868     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990205)88:1<50::AID-AJMG9>3.0.CO;2-W     Document Type: Article

References (34)

1. American Psychiatric Association. 1987. Diagnostic and statistical manual of mental disorders-3rd ed. rev. Washington, DC: American Psychiatric Association.
2. American Psychiatric Association. 1994. Diagnostic and statistical manual of mental disorders-4th ed. rev. Washington, DC: American Psychiatric Association.
3. Andreasen NC, Olson S. 1982. Negative versus positive schizophrenia: Definition and validation. Arch Gen Psychiatry 39:789-794.
4. Asherson P, Walsh C, Williams J, Sargeant M, Taylor C, Clements A, Gill M, Owen M, McGuffin P. 1994. Imprinting and anticipation. Are they relevant to genetic studies of schizophrenia? Br J Psychiatry 164:619-624.
5. Bassett AS, Honer WG. 1994. Evidence for anticipation in schizophrenia. Am J Hum Genet 54:864-870.
6. Bowen T, Guy C, Speight G, Jones L, Cardno A, Murphy K, McGuffin P, Owen MJ, O'Donovan MC. 1996. Expansion of 50 CAG/CTG repeats excluded in schizophrenia by application of a highly efficient approach using repeat expansion detection and PCR screening set. Am J Hum Genet 59:912-917.
7. Busch H, von Cranach M, Gulbinat W, Renfordt E, Tegeler J. 1980. Reliability of the AMDP-system. A preliminary report on a multicentre exercise on the reliability of psychopathological assessment. Acta Psychiatr Scand 62:382-392.
8. Cardno AG, Murphy KC, Jones LA, Guy CA, Asherson P, De Azevedo MHP, Da Cruz Coelho IMO, De Macedo e Santos AJF, Pato CN, McGuffin P, Owen MJ, O'Donovan MC. 1996. Expanded CAG/CTG repeats in schizophrenia. A study of clinical correlates. Br J Psychiatry 169:766-771.
9. Carpenter WT, Buchanan RW. 1994. Schizophrenia. N Engl J Med 330: 681-690.
10. Gottesman II, Shields J. 1982. Schizophrenia: the epigenetic puzzle. New York and Cambridge: University Press.
11. Heiman GA, Hodge SE, Wickramaratne P, Hsu H. 1996. Age-at-interview bias in anticipation studies: Computer simulations and an example with panic disorder. Psychiatr Genet 6:61-66.
12. Jain S, Leggo J, DeLisi LE, Crow T, Margolis RL, Li SH, Goodburn S, Walsh C, Paykel ES, Ferguson-Smith MA, Ross CA, Rubinsztein DC. 1996. Analysis of thirteen trinucleotide repeat loci as candidate genes for schizophrenia and bipolar affective disorder. Am J Med Genet (Neuropsychiatr Genet) 67:139-146.
13. Kirov G, Murray R. 1997. The molecular genetics of schizophrenia: Progress so far. Mol Med Today 3:124-130.
14. Lander ES, Schork NJ. 1994. Genetic dissection of complex traits. Science 265:2037-2048.
15. Lewine RRJ. 1980. Sex differences in age of symptom onset and first hospitalization in schizophrenia. Am J Orthopsychiatry 50:316-322.
16. Lindblad K, Nylander P-O, De Bruyn A, Sourey D, Zander C, Engström C, Holgren G, Hudson T, Chotai J, Mendlewicz J, Van Broeckhoven C, Schalling M, Adolfsson R. 1995. Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method. Neurobiol Dis 2:55-62.
17. Lindblad K, Savontaus M-L, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek L, Anttinen A, Brice A, Schalling M. 1996. An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res 6:965-971.
18. Martorell L, Pujana MA, Volpini V, Sánchez A, Joven J, Vilella E, Estivill X. 1997. The repeat expansion detection (RED) method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations. Hum Mutat 10:486-488.
19. McInnis MG, McMahon FJ, Chase GA, Simpson SG, Ross CA, DePaulo JR. 1993. Anticipation in bipolar affective disorder. Am J Hum Genet 53: 385-390.
20. Morris AG, Gaitonde E, McKenna PJ, Mollon JD, Hunt DM. 1995. CAG repeat expansions and schizophrenia: Association with disease in females and with early age-at-onset. Hum Mol Genet 4:1957-1961.
21. Mott FW. 1910. Hereditary aspects of nervous and mental diseases. Br Med J 2:1013-1020.
22. O'Donovan MC, Guy C, Craddock N, Murphy KC, Cardno AG, Jones LA, Owen MJ, McGuffin P. 1995. Expanded CAG repeats in schizophrenia and bipolar disorder. Nat Genet 10:380-381.
23. O'Donovan MC, Guy C, Craddock N, Bowen T, McKeon P, Macedo A, Maier W, Wildenauer D, Aschauer HN, Sorbi S, Feldman E, Mynett-Johnson L, Claffey E, Nacmias B, Valente J, Dourado A, Grassi E, Lenzinger E, Heiden AM, Moorhead S, Harrison D, Williams J, McGuffin P, Owen MJ. 1996. Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder. Psychol Med 26: 1145-1153.
24. Ohara K, Tani K, Tsukamoto T, Suzuki Y, Xu H-D, Xu D-S, Wang Z-C, Ohara K. 1997. Exclusion of five trinucleotide repeat (CAG and CCG) expansions in 17 families with schizophrenia. Biol Psychiatry 42:756-759.
25. Oruc L, Lindblad K, Verheyen GR, Ahlberg S, Jakovlevic M, Ivezik S, Raeymaekers P, Van Broeckhoven C, Schalling M. 1997. CAG repeat expansions in bipolar and unipolar disorders. Am J Hum Genet 60: 730-732.
26. Penrose LS. 1948. The problem of anticipation in pedigrees of dystrophia myotonica. Ann Eugen 14:125-132.
27. Petronis A, Bassett AS, Honer WG, Vincent JB, Tatuch Y, Sasaki T, Ying DJ, Klempan TA, Kennedy JL. 1996. Search for unstable DNA in schizophrenia families with evidence for genetic anticipation. Am J Hum Genet 59:905-911.
28. Reddy PS, Housman DE. 1997. The complex pathology of trinucleotide repeats. Curr Opin Cell Biol 9:364-372.
29. Richards RI, Sutherland GR. 1992. Dynamic mutations: A new class of mutations causing human disease. Cell 70:709-712.
30. 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.
31. Sirugo G, Kidd KK. 1995. Repeat expansion detection using Ampligase Thermostable DNA ligase. Epicentre Forum 2:1-3.
32. Thibaut F, Martinez M, Petit M, Jay M, Campion D. 1995. Further evidence for anticipation in schizophrenia. Psychiatry Res 59:25-33.
33. Valero J, Martorell L, Mariné J, Vilella E, Labad A. 1998. Anticipation and imprinting in Spanish families with schizophrenia. Acta Psychiatr Scand 97:343-350.
34. Vincent JB, Klempan T, Parikh SS, Sasaki J, Meltzer HY, Sirugo G, Cola P, Petronis A, Kennedy JL. 1996. Frequency analysis of large CAG/ CTG trinucleotide repeats in schizophrenia and bipolar affective disorder. Mol Psychiatry 1:141-148.