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Studies on DNA markers (D4S10 and D4S43/S127) genetically linked to Huntington's disease in Japanese families

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Summary

This is the first full report on the genetic linkage between Japanese Huntington's disease and the DNA markers D4S10 and D4S43/S127. With use of the HindIII, BglI, and EcoRI polymorphisms detected at D4S10, and the combination of all these polymorphisms to give composite haplotypes, nine Japanese Huntington's disease families were found to be informative. Three recombinants for D4S10 were detected in these families, giving a maximum lod score of 1.662 at a θ of 0.10. Similarly, when we used the MspI and PvuII polymorphisms detected by D4S43/S127, five families gave informative results. No recombinant was detected in these families, giving a maximum lod score of 3.348 at a θof 0.00. These results clearly support the view that the Japanese Huntington's disease gene may be identical with the Western gene, in spite of the lower prevalence rate in Japan.

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References

  • 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 Maino L, Holmgren G, Abvret M, Kanazawa I, Gusella JF (1989) Huntington's disease: no evidence for locus heterogeneity. Genomics 5:304–308

    Google Scholar 

  • Curtis A, Millan F, Hollway S, Mennie M, Crosbie A, Raeburn JA, Brock DJH (1989) Presymptomatic testing for Huntington's disease. A case of complicated by recombination within the D4S10 locus. Hum Genet 81:188–190

    Google Scholar 

  • Gilliam TC, Tanzi RE, Haines JL, Bonner TI, Faryniarz AG, Hobbs WJ, MacDonald ME, Cheng SV, Folstein SE, Conneally PM, Wexler NS, Gusella JF (1987a) Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell 50:565–571

    Google Scholar 

  • Gilliam TC, Bucan M, MacDonald ME, Zimmer M, Haines JL, Cheng SV, Pohl TM, Myers RH, Whaley WL, Allitto BA, Faryniarz A, Wasmuth JJ, Frischauf A-M, Conneally PM, Lehrach H, Gusella JF (1987b) A DNA segment encoding two genes very tightly linked to Huntington's disease. Science 238:950–952

    Google Scholar 

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

    CAS  PubMed  Google Scholar 

  • Gusella JF, Tanzi RE, Anderson MA, Hobbs W, Gibbson K, Raschtchian R, Gilliam TC, Wallace MR, Wexler NS, Conneally PM (1984) DNA markers for nervous system disorders. Science 225:1320–1326

    Google Scholar 

  • Harper PS, Youngman S, Anderson MA, Sarfarazi M, Quarrell O, Tanzi R, Shaw D, Wallace P, Conneally PM, Gusella JF (1985) Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families. J Med Genet 22:447–450

    Google Scholar 

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

    Google Scholar 

  • Hayden MR, Robbins C, Allard D, Haines J, Fox S, Wasmuth J, Fahy M, Bloch M (1988) Improved predictive testing for Huntington's disease by using three linked DNA markers. Am J Hum Genet 43:689–694

    Google Scholar 

  • Ikonen E (1989) Oral presentation at the 13th Meeting of the Research Group on Huntington's Chorea at Vancouver Kanazawa I (1983) On the prevalence rate of Huntington's disease in Ibaraki prefecture. Annual Report of the Research Committee of CNS Degenerative Diseases 1982, pp 151–156

  • Kishimoto K, Nakamura M, Sotokawa Y (1957) Population genetics study of Huntington's chorea in Japan. Annu Rep Res Inst Environ Med 9:195–211

    Google Scholar 

  • Kunkel LH, Smith KD, Boyer SH, Borgaonkar HW, Rary JM (1977) Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245–1249

    CAS  PubMed  Google Scholar 

  • Kure S (1918) Psychopathy-chorea-murder. Shinkeigaku-Zasshi 17:334–348,400–410

    Google Scholar 

  • Lathrop GM, Lalouel JM (1984) Easy calculation of scores and genetic risks on small computers. Am J Hum Genet 36:460–465

    Google Scholar 

  • MacDonald ME, Cheng SV, Zimmer M, Haines JL, Poustka A, Allitto B, Smith B, Whaley WL, Romano DM, Jagadeesh J, Myers RH, Lehrach H, Wasmuth JJ, Frischauf A-M, Gusella JF (1989) Clustering of multi-allele DNA markers near the Huntington's disease gene. J Clin Invest 84:1013–1016

    Google Scholar 

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

    CAS  PubMed  Google Scholar 

  • Wasmuth JJ, Hewitt J, Smith B, Allard D, Haines JL, Skarecky D, Partlow E, Hayden MR (1988) A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature 332:734–736

    Google Scholar 

  • Whaley WL, Michiels F, MacDonald ME, Romano D, Zimmer M, Smith B, Leavitt J, Bucan M, Haines JL, Gilliam TC, Zehetner G, Smith C, Cantor CR, Frischauf A-M, Wasmuth JJ, Lehrach H, Gusella JF (1988) Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. Nucleic Acids Res 16:11769–11780

    Google Scholar 

  • Yoshimasu S (1927) A case of chronic progressive chorea. Psychiat Neurol Japon 28:217

    Google Scholar 

  • Youngman S, Sarfarazi M, Quarrell OWJ, Conneally PM, Gibbons K, Harper PS, Shaw DJ, Tanzi RE, Wallace MR, Gusella JF (1986) Studies of a DNA marker (G8) genetically linked to Huntington's disease in British families. Hum Genet 73:333–339

    Google Scholar 

  • Youngman S, Shaw DJ, Gusella JF, MacDonald M, Stanbridge EJ, Wasmuth J, Harper PS (1988) A DNA probe, D5 [D4S90], mapping to human chromosome 4p16. 3. Nucleic Acids Res 16:1648

    Google Scholar 

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Kanazawa, I., Kondo, I., Ikeda, JE. et al. Studies on DNA markers (D4S10 and D4S43/S127) genetically linked to Huntington's disease in Japanese families. Hum Genet 85, 257–260 (1990). https://doi.org/10.1007/BF00206741

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  • DOI: https://doi.org/10.1007/BF00206741

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