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Huntington disease in Finland: a molecular and genealogical study


Huntington disease (HD) is found at exceptionally low frequency in the Finnish population. In this population, linkage disequilibrium was earlier established with markers from the D4S10 and D4S43 loci. We now report a continuation to the restriction fragment length polymorphism haplotype analysis, in combination with a genealogical study of all the Finnish HD families. When the HD pedigrees were systematically traced to the 18th century, only one consanguinity was found, and a high percentage (28%) of the families had foreign ancestors. The majority of the Finnish ancestors were localized to border regions or trade centers of the country following the old postal routes. The observed high risk haplotypes formed with markers from the D4S10 and D4S43 loci were evenly distributed among the HD families in different geographical locations. Consequently, the HD gene(s) has most probably arrived in Finland on several occasions via foreign immigrants during the last few centuries.

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  1. Adam S, Theilmann J, Buetow K, Hedrick A, Collins C, Weber B, Huggins M, Hayden M (1991) Linkage disequilibrium and modification of risk for Huntington disease. Am J Hum Genet 48:595–603

  2. Allitto BA, MacDonald ME, Bucan M, Richards J, Romano D, Whaley WL, Falcone B, Ianazzi J, Wexler NS, Wasmuth J, Collins FS, Lehrach H, Haines J, Gusella J (1991) Increased recombination adjacent to the Huntington disease-linked D4S10 marker. Genomics 9:104–112

  3. Bates GP, MacDonald ME, Baxendale S, Youngman S, Lin C, Whaley WL, Wasmuth JJ, Gusella JF, Lehrach H (1991) Defined physical limits of the Huntington disease gene candidate region. Am J Hum Genet 49:7–16

  4. Conneally PM, Haines JL, Tanzi RE, Wexler NS, Penchaszadeh GK, Harper PS, Folstein SE, Cassiman JJ, Myers RH, Young AB, Hayden MR, Falek A, Tolosa ES, Crespi S, Di Maio L, Holmgren G, Anvret M, Kanazawa I, Gusella J (1989) Huntington disease: no evidence for locus heterogeneity. Genomics 5:304–308

  5. Feinberg AP, Vogelstein P (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13

  6. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, Young AB, Shoulson I, Bonilla E, Martin JB (1983) A polymorphic marker genetically linked to Huntington's disease. Nature 306:234–238

  7. Hayden MR (1981) Huntington's chorea, 10th edn. Springer, Berlin Heidelberg New York

  8. Hayden MR, MacGregor JM, Beighton PH (1980) The prevalence of Huntington's chorea in South Africa. S Afr Med J 58:193–196

  9. Ikonen E, Palo J, Ott J, Gusella J, Somer H, Karila L, Palotie A, Peltonen L (1990) Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus. Am J Hum Genet 46:5–11

  10. Kanazawa I, Kondo I, Ikeda J-E, Ikeda T, Shizu Y, Yoshida M, Narabayashi H, Kuroda S, Tsunoda H, Mizuta E, Okuno Y, Sugawara K, Murata M, Takahashi M, Gusella J (1990) Studies on DNA markers (D4S10 and D4S43/S127) genetically linked to Huntington's disease in Japanese families. Hum Genet 85:257–260

  11. Kere J, Norio R, Savilahti E, Estivill X, Chapelle A de la (1989) Cystic fibrosis in Finland: a molecular and genealogical study. Hum Genet 83:20–25

  12. MacDonald ME, Haines JL, Zimmer M, Cheng SV, Youngman S, Whaley WL, Wexler N, Bucan M, Allitto BA, Smith B, Leavitt J, Poutska A, Harper P, Lehrach H, Wasmuth JJ, Frischauf A-M, Gusella J (1989) Recombination events suggest potential sites for the Huntington's disease gene. Neuron 3:183–190

  13. Mattsson B (1974) Huntington's chorea in Sweden. Acta Psychiatr Scand 255 [Suppl]:211–220

  14. Meretoja J (1973) Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. Clin Genet 4:173–185

  15. Palo J, Somer H, Ikonen E, Karila L, Peltonen L (1987) Low prevalence of Huntington's disease in Finland. Lancet II:805–806

  16. Pritchard C, Casher D, Bull L, Cox DR, Myers RM (1990) A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients. Proc Natl Acad Sci USA 87:7309–7313

  17. Robbins C, Theilmann J, Youngman S, Haines J, Altherr MJ, Harper PS, Payne C, Junker A, Wasmuth J, Hayden M (1989) Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am J Hum Genet 44:422–425

  18. Snell RG, Lazarou LP, Youngman S, Quarrell OWJ, Wasmuth JJ, Shaw DJ, Harper PS (1989) Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. J Med Genet 26:673–675

  19. Southern E (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517

  20. Theilmann J, Kanani S, Shiang R, Robbins C, Quarrell O, Huggins M, Hedrick A, Weber B, Collins C, Wasmuth JJ, Buetow KH, Murray JC, Hayden MR (1989) Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Med Genet 26:676–681

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Ikonen, E., Ignatius, J., Norio, R. et al. Huntington disease in Finland: a molecular and genealogical study. Hum Genet 89, 275–280 (1992).

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  • Linkage Disequilibrium
  • Fragment Length
  • Length Polymorphism
  • Restriction Fragment Length Polymorphism
  • Restriction Fragment