Abstract
We have studied different tissues from two affected fetuses with Huntington's disease (HD). In the first case the analysis was performed at 11 weeks of pregnancy; CAG repeats from seven different tissues were compared with the results obtained in the chorionic villi sample (CVS). We found 42 CAG repeats in all samples. In the second case the study was done at 12 weeks; eight tissues (including brain) were studied and compared with the CVS; in all of them, 44 CAG repeats were obtained. Our results show a somatic stability in the different analyzed tissues and suggest that mitotic instability can be a secondary consequence of neuronal degeneration and gliosis. Likewise, our data show great viability in the prenatal diagnosis (PD) of Huntington's disease using samples from any tissue.
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References
Andrew SE, Goldberg P, Kremer B, Telenius H, Theilman J, Adam S, Star E, Squiteri F, Lin B, Kalchman MA, Graham R, Hayden MR (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet 4:398–403
Benitez J, Fernandez E, Garcia Ruiz P, Robledo M, Ramos C, Garcia Yebenes J (1994) Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease. Hum Genet 94:563–564
Gusella JF, Wexler N, Conneally PM, Naylor SL, Anderson MA, Tazi RA (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306:234–238
Kremer B, Hedrick A, Andrew S, Riess O, Collins C, Kowbel D, Hayden M (1992) Isolation and characterization of new highly polymorphic DNA markers from the Huntington's disease region. Am J Hum Genet 50:382–393
Kremer B, Goldber P, Andrew S. Theilmann J, Telenius H, Zeisler J, Squitieri F, Lin B, Bassett A, Almqvist E, Bird T, Hayden M (1994) A worldwide study of the Huntington's disease mutation. N Engl J Med 30:1401–1406
MacDonald M, Barnes G, Srinidhi J, Duyao M, Ambrose C, Myers R, Gray J, Conneally M, Young A, Penney J, Shoulson I, Koroshetz W, Bird E, Vonsattel J, Bonilla E, Moscowitz C, Penchaszadeh G, Brzustowicz L, Alvir J, Bickham J, Cha J, Dure L, Gomez F, Ramos M, Sanchez J, Snodgrass S, Young M, Wexler N, MacFarlane H, Andersen M, Jenkins B, Gusella JF (1993) Gametic but not somatic instability of CAG repeat length in Huntington's disease. J Med Genet 30:982–986
Riess O, Noerremoelle A, Soerensen SA, Epplen J (1993) Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease. Hum Mol Genet 6:637
Snell RG, MacMillan J, Cheadle JP, Fenton I, Lazarou LP, Davies P, Macdonald M, Gusella F, Harper PS, Shaw DJ (1993) Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet 4:393–397
Telenius H, Kremer B, Goldberg Y, Theilmann J, Andrew SE, Zeisler J, Adam S, Greenberg C, Ives E, Clarke LA, Hayden MR (1994) Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nature Genet 6:409–415
The Huntington's disease collaborative research group (1993) A ovel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971–983
Zuhlke C, Riess O, Bockel B, Lange H, Thies U (1993) Mitotic stability and meiotic variability of the (CAG) repeat in the Huntington disease gene. Hum Mol Genet 2:2063–2067
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Benitez, J., Robledo, M., Ramos, C. et al. Somatic stability in chorionic villi samples and other Huntington fetal tissues. Hum Genet 96, 229–232 (1995). https://doi.org/10.1007/BF00207386
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DOI: https://doi.org/10.1007/BF00207386