The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

Nature Genetics

Volumn 4, Issue 4, 1993, Pages 398-403

  Andrew, Susan E ^a   Goldberg, Y Paul ^a   Kremer, Berry ^a   Telenius, Håkan ^a   Theilmann, Jane ^a   Adam, Shelin ^a   Starr, Elizabeth ^a   Squitieri, Ferdinando ^a   Lin, Biaoyang ^a   Kalchman, Michael A ^a   Graham, Rona K ^a   Hayden, Michael R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

TRINUCLEOTIDE;

ARTICLE; CHILD PARENT RELATION; CLINICAL FEATURE; DEATH; FEMALE; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MALE; ONSET AGE; SIBLING;

ADOLESCENT; ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA; FEMALE; GENOTYPE; HUMAN; HUNTINGTON DISEASE; LEUKOCYTES; MALE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; NUCLEAR FAMILY; OLIGODEOXYRIBONUCLEOTIDES; PHENOTYPE; REPETITIVE SEQUENCES, NUCLEIC ACID; SUPPORT, NON-U.S. GOV'T;

EID: 0027176364     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0893-398     Document Type: Article

References (27)

1. Hayden, M. R. Huntington's chorea (Springer-Verlag, New York, 1981).
2. Harper, P. S. Huntington's disease (W. B. Saunders, London, 1991).
3. Gusella, J. F. et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306, 234-238 (1983).
4. Huntington Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington disease chromosomes. Cell 72, 971-983 (1993). PubMed
5. n. Science 252, 1711-1714 (1991).
6. Mahadevan, M. et al. Myotonic dystrophy mutation an unstable CTG repeat in the 3' untranslated region of the gene. Science 255, 1253-1255 (1992).
7. Fu, Y-H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1258 (1992).
8. Brook, J. D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 68, 799-808 (1992).
9. La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E. & Fischbeck, K. H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79 (1991).
10. Fu, Y. H. et al. Variation of the CCG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67, 1047-1058 (1991).
11. Orr, H. T. et al. Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
12. Richards, R. I. & Sutherland, G. R. Dynamic mutations: A new class of mutations causing human disease. Cell 70, 709-712 (1992).
13. Hayden, M. R. On planting alfalfa and growing orchids: The cloning of the gene causing Huntington disease. Clin. Genet. 43, 217-222 (1993).
14. Mandel, J. L. Questions of expansion. Nature Genet 4, 8-9 (1993).
15. Redman, J. B., Fenwick, R. G. Jr., Fu, Y. H., Pizzuti, A. & Caskey, C. T. Relationship between parental trinucleotide CTG repeat length and severity of myotonic dystrophy in offspring. J. Am. med. Assoc. 269, 1960-1965 (1993).
16. Tsilfidis, C., MacKenzie, A. E., Mettler, G., Barcelo, J. & Korneluk, R. G. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nature Genet. 1, 192-195 (1992).
17. Hunter, A. et al. The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J. med. Genet. 29, 774-779 (1992).
18. La Spada, A. R. et al. Meiotic stability and genotype-phenotype correlation of the expanded trinucleotide repeat sequence in X-linked spinal and bulbar muscular atrophy. Nature Genet. 2, 301-304 (1992).
19. Merritt, A. D., Conneally, P. M., Rahman, N. F. & Drew, A. L., Huntington's chorea. In Progress in neurogenetics (eds Barbeau, A. & Brunnett, J. R.) 645-650 (Excerpta Medica, Amsterdam, 1969).
20. Farrer, L. A. & Conneally, P. M. A genetic model for age of onset in Huntington disease. Am. J. hum. Genet. 37, 350-357 (1985).
21. Myers, R. H., Madden, J. J., Teague, J. L. & Falek, A. Factors related to onset age in Huntington's disease. Am. J. hum. Genet. 34, 481-488 (1982).
22. Adams, P., Falek, A. & Arnold, J. Huntington disease in Georgia: age at onset. Am. J. hum. Genet. 43, 695-704 (1988).
23. Hayden, M. R., Soles, J. A. & Ward, R. H. Age of onset in siblings of persons with juvenile onset Huntington disease. Clin. Genet 28, 100-105 (1985).
24. Stevens, D. L. The heterozygote frequency for Huntington's chorea. InHuntington's chorea, 1872-1972 (eds Barbeau A., Chase T. N. & Paulson G. W.) 191-198 (Raven Press, New York).
25. Kunkel, L. M. et al. Analysis of human Y chromosome specific reiterated DNA in chromosome variants. Proc. natn. Acad. Sci. U. S. A. 74, 1245-1249 (1977).
26. Goldberg, Y. P., Andrew, S. E., Clarke, L. A. & Hayden, M. R. A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Hum. molec. Genet. 6, 635-636 (1993).
27. Draper, N. & Smith, H. Applied regression analysis 2nd edn (Wiley, New York, 1981).