Abstract
Huntington's disease (HD) is a neurodegenerative and hereditary disease characterized by progressive movement disorders and mental and behavioral abnormalities. The HD gene is an expanding and unstable trinucleotide repeat (CAG repeat sequences). We studied 77 individuals from 38 families with HD in an attempt to obtain information for genetic counselling and differential diagnosis. Our results indicate that individuals with more than 40 repeats will be affected by the disease, whereas those with fewer than 30 will be healthy. There can be some overlap between 30 and 40 repeats, and one should be careful when interpreting these results.
References
Andrew SE, Goldberg P, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, Squiteri F, Lin B, Kalchman MA, Graham RK, Hayden MR (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet 4:398–403
Barron LH, Warner JP, Porteous M, Holloway S, Simpson S, Davidson R, Brock DJH (1993) A study of the Huntington's disease associated trinucleotide repeat in the Scottish population. J Med Genet 30:1003–1008
Benitez J, Ramos C, Fernandez E, Ayuso C, Yébenes J (1992) Study of DNA markers associated to Huntington's disease (D4S10 and D4S95) in Spanish families. Rev Clin Esp 190:299–301
Duyau M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M, Gray J, Conneally P, Young A, Penney J, Hollingsworth Z, Shoulson I, Lazzarini A, Falek A, Koroshetz W, Sax D, Bird E, Vonsattel J, Bonilla E, Alvir J, Conde JB, Cha J-H, Dure L, Gomez F, Ramos M, Sanchez-Ramos J, Snodgrass S, de Young M, Wexler N, Moscowitz C, Penchaszadeh G, MacFarlane H, Anderson M, Jenkins B, Srinidhi J, Barnes G, Gusella J, MacDonald M (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet 4:387–392
Huntington's Disease Collaborative Research Group (HDCRG) (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971–983
Nørremølle A, Riess O, Epplen JT, Fenger K, Hasholt L, Sørensen AS (1993) Trinucleotide repeat elongation in the Huntington gene in Huntington disease patients from 71 Danish families. Hum Mol Genet 2:1475–1476
Rooij KE De, De Koning Gans PAM, Skraastad MI, Belfrod RDM, Vegter Van der Vlis M, Roos RAC, Bakker E, Ommen GJ Van, Dunnen JT Den, Losekoot M (1993) Dynamic mutation in Dutch Huntington's disease patients; increased paternal instability extending to within the normal size range. J Mcd Genet 30:996–1002
Rubinstein DC, Barton DE, Davison BCC, Ferguson-Smith MA (1993) A trinucleotide repeat length polymorphism in the CCG rich regions of the Huntington gene: linkage disequilibrium between the smallest allele and Huntington's disease chromosome. Hum Mol Genet 2:1713–1715
Snell RG, MacMillan J, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ (1993) Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet 4:393–397
Valdes JM, Tagle DA, Elmer L, Collins F (1993) A simple non-radioactive method for diagnosis of Huntington's disease. Hum Mol Genet 2:633–634
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Benitez, J., Fernandez, E., Ruiz, P.G. et al. Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease. Hum Genet 94, 563–564 (1994). https://doi.org/10.1007/BF00211028
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00211028