MOLECULAR ANALYSIS OF HUNTINGTON’S DISEASE IN THE REPUBLIC OF MACEDONIA
Koceva S1,2, Dimovski AJ1, Plaseska-Karanfiska D1, Stefanovska A-M1, Vlaski-Jekic S3, Efremov GD1,*
*Corresponding Author: Professor Dr. Georgi D. Efremov, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Aven Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel: +3892-120253; Fax: +3892-115434; E-mail: gde@manu.edu
page: 47

REFERENCES

1. Harper PS, Morris MJ, Quarrell O, Shaw DJ, Tyler A, Youngman S. Huntington's disease. Philadelphia: W.B. Saunders Company, 1991.

      2. Martin JB, Gusella JF. Huntington's disease: patho­genesis and management. N Engl J Med 1986; 315: 1267-1276.

      3. 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. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983; 306: 234-238.

      4. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72: 971-983.

      5. Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassin JJ, Chotai K, Connarty M, Crauford D, Curtis A, Curtis D, Davidson MJ, Differ AM, Dode C, Dodge A, Frontali M, Ranen NG, Stine OC, Sherr M, Abbott MH, Franz ML, Graham CA, Harper PS, Hedreen JC, Hayden MR et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996; 59(1): 16-22.

      6. Brinkman RR, Mezei MM, Theilmann J, Almqvist E, Hayden MR. The likelihood of being affected with Huntington’s disease by a particular age, for a specific CAG size. Am J Hum Genet 1997; 60: 1202-1210.

      7. McNeil SM, Novelletto A, Srinidhi J, Barnes G, Kornbluth I, Altherr MR, Wasmuth JJ, Gusella JF, MacDonald ME, Myers RH. Reduced penetrance of the Huntington's disease mutation. Hum Mol Genet 1997; 6: 775-779.

      8. Goldberg YP, McMurray CT, Zeisler J, Almqvist E, Sillence D, Richards F, Gacy AM, Buchanan J, Telenius H, Hayden MR. Increased instability of intermediate alleles in families with sporadic Huntington’s disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 1995; 4: 1911-1918.

      9. Efremov GD, Dimovski A J, Plaseska-Karanfilska D, Simjanovska L, Sukarova E, Koceva S, Popovski Z. Laboratory Manual, 2nd ed. ICGEB Affilated Centre course “ Nucleic acid based methods in human and veterinary medicine,” Skopje, Republic of Macedonia, 1998.

      10. Guida M, Fenwick RG, Papp AC, Snyder PJ, Sedra M, Prior TW. Southern transfer protocol for confirmation of Huntington’s disease. Clin Chem 1996; 42: 1711-1712.

      11. Efremov DG, Dimovski AJ, Efremov GD: Detection of b-thalassemia mutations by ASO hybridization of PCR amplified DNA with digoxigenin ddUTP labeled oligonucleotides. Hemoglobin 1991; 15(6):525-533.

      12. Kremer B, Goldberg P, Andrew SE, Thelimann J, Telenius H, Zeisler J, Squitieri F, Lin B, Bassett A, Almqvist E, Bird TD, Hauden MR. Worldwide study of the Huntington’s disease mutation: the sensytivity and specyficity of repeated CAG sequences. N Engl J Med 1994; 20: 1401-1406.




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