DNA testing for Huntington disease in the Turkish population

European Neurology

Volumn 50, Issue 1, 2003, Pages 20-24

  Akbas, Fahri ^a   Erginel Unaltuna, Nihan ^a,b  

^a ISTANBUL UNIVERSITY   (Turkey)

^b NONE   (Turkey)

Author keywords

CAG repeats; Huntington disease; Mutation; Population

Indexed keywords

DNA; TRINUCLEOTIDE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 4; CONTROLLED STUDY; CORRELATION ANALYSIS; CORRELATION COEFFICIENT; DNA SCREENING; GENE; GENETIC DISORDER; HIGH RISK POPULATION; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE REPEAT; ONSET AGE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT; TURKEY (REPUBLIC);

ADOLESCENT; ADULT; AGED; ALLELES; CHILD; CHROMOSOMES, HUMAN, PAIR 4; DNA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; HUNTINGTON DISEASE; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEINS; TRINUCLEOTIDE REPEATS; TURKEY;

EID: 0038646365     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000070854     Document Type: Article

References (24)

1. 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.
2. Alonso ME, Yescas P, Cisneros B, Martinez C, Silva G, Ochoa A, Montanez C: Analysis of the (CAG)n repeat causing Huntington's disease in a Mexican population. Clin Genet 1997;51:225-230.
3. Angelletto A, Persichetti F, Sabbadini G, Mandich P, Bellone E, Ajmar F, Senno L, Gusella JF, Frontali M: Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum Mol Genet 1994;3:93-98.
4. Chan V, Yu YL, Chan TP, Yip B, Chang CM, Wong MT, Chan YW, Chan TK: DNA analysis of Huntington's disease in southern Chinese. J Med Genet 1995;32:120-124.
5. Raskin S, Allan N, Teive HA, Cardoso F, Haddad MS, Levi G, Boy R, Lerena Junior J, Sotomaior VS, Janzen-Duck M, Jardim LB, Fellander FR, Andrade LA: Huntington disease: DNA analysis in Brazilian population. Arq Neuropsiquiatr 2000;58:977-985.
6. Foroud T, Gray J, Ivashina J, Conneally PM: Differences in duration of Huntington's disease based on age at onset. J Neurol Neurosurg Psychiatry 1999;66:52-56.
7. Kremer B, Almqvist E, Theilmann J, Spence N, Telenius H, Goldberg YP, Hayden MR: Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet 1995;57:343-350.
8. Warner JP, Barron LH, Brock DJH: A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 1993;7:235.
9. Gazit E, Lubomirov L, Munakov O, Topper A, Frydman M, Fried K, Carp HJA: Distribution of CAG repeats in normal and Huntington's disease patients in Israel. Clin Genet 1998;54:250-251.
10. Kremer B, Goldberg P, Andrew SE, Theilmann J, Telenius H, Zeisler J, Squitieri F, Lin B, Bassett A, Almqvist E, Hayden MR: A world wide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994;330:1401-1406.
11. 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 disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 1995;4:1911-1918.
12. Leeflang EP, Zhang L, Tavare S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, de Young M, Wexler NS, Gusella JF: Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum. Hum Mol Genet 1995;4:1519-1526.
13. Rubinsztain DC: Intracellular inclusions, pathological markers in diseases caused by expanded polyglutamine tracts? J Med Genet 1999;36:265-270.
14. ACMG/ASHG statement: Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics. Huntington Disease Genetic Testing Working Group. Am J Hum Genet 1998;62:1243-1247.
15. Losekoot M, Bakker B, Laccone F, Stenhouse S, Elles R: A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease. Eur J Hum Genet 1999;7:217-222.
16. Christine MP: Strong correlation between polyglutamine repeat size in the Huntington's disease gene and the disease phenotype. Int Soc Neurochem 1999;72(suppl):21.
17. Stine OC: Correlation between the onset age of Huntington disease and length of the trinucleotide repeat in IT-15. Hum Mol Genet 1993;2:1547-1548.
18. Leavitt BR, Wellington CL, Hayden MR: Recent insight into the molecular pathogenesis of Huntington disease. Semin Neurol 1999;19:385-395.
19. MacDonald ME, Gusella JF: Huntington disease: Translating a CAG repeat into a pathogenic mechanism. Curr Opin Neurobiol 1996;6:638-643.
20. Paulson HL: Protein fate in neurodegenerative proteinopathies: Polyglutamine diseases join the misfold. Am J Hum Genet 1999:64:339-345.
21. Sinden R: Biological implication of the DNA structures associated with disease causing triplet repeats. Am J Hum Genet 1999:64:346-353.
22. Beal MF, Hantraye P: Novel therapies in the search for a cure for Huntington's disease. Proc Natl Acad Sci USA 2001;98:3-4.
23. Ferrante RJ, Andreassen OA, Jenkins BG, Dedeoglu A, Kuemmerle S, Kubilus JK, Kaddurah-Daouk R, Hersch SM, Beal MF: Neuroprotective effects of creatine in a transgenic mouse model of Huntington's disease. J Neurosci 2000;20:4389-4397.
24. Liu YF: Expression of polyglutamine-expanded huntingtin activates the SEK1-JNK pathway and induces apoptosis in a hippocampal neuronal cell line. J Biol Chem 1998;273:28873-28877.