Relationships of the 2642 deletion polymorphism (Δ2642) in the huntingtin gene with the CAG repeat expansion length and age at onset of the disease

Genetic Counseling

Volumn 7, Issue 4, 1996, Pages 297-302

  Lucotte, G ^a,d   Gerard N ^a   Roubertoux, P ^b   Schmitt, I ^c   Riess, O ^c  

^a REIMS UNIVERSITY HOSPITAL   (France)

^b Institut d'anatomie de Paris   (France)

^c RUHR UNIVERSITY BOCHUM   (Germany)

^d HÔPITAL MAISON BLANCHE   (France)

Author keywords

2642 deletion polymorphism ( 2642); Huntington's disease (HD); Severity of the disease

Indexed keywords

REPETITIVE DNA;

ARTICLE; DISEASE SEVERITY; DNA POLYMORPHISM; GENE DELETION; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; ONSET AGE;

ADULT; AGE OF ONSET; BASE SEQUENCE; CODON; GENE DELETION; HOMOZYGOTE; HUMANS; HUNTINGTON DISEASE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SEVERITY OF ILLNESS INDEX;

EID: 0029769357     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. ALMQVIST E., SPENCE N., NICHOL K., ANDREW S.E., VESA J., PELTONEN L., ANVRET M., GOTO J., KANAZAWA I., GOLDBERG Y.P. and HAYDEN M.R.: Ancestral differences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Hum. Mol. Genet., 1995, 4, 207-214.
2. AMBROSE C.M., DUYAO M.P., BARNES G., BATES G.P., LIN C.S., SRINIDHI J., BAXENDALE S., HUMMERICH H., LEHRACH H., ALTHERR M., WASMUTH J., BUCKLER A., CHURCH D., HOUSMAN D., BERKS M., MICKLEM G., DURBIN R., DODGE A., READ A., GUSELLA J. and MACDONALD M.E.: Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Som. Cell Mol. Genet., 1994. 20, 27-38.
3. HUNTINGTON 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.
4. LUCOTTE G., AOUIZÉRATE A., LOREILLE O., GÉRARD N., TURPIN J.C. and THE FRENCH HD RESEARCH GROUP: Trinucleotide repeat elongation in the huntingtin gene in Huntington's disease patients from 85 French families. Genet Couns., 1994, 5, 321-328.
5. n repeat, in Huntington's disease. Hum. Genet., 1995, 95, 231-232.
6. NOVELLETO A., PERSICHETTI F., SABBADINT G., MANDICH P., BELLONE E., AJMAR F., SQUITIERI F., CAMPANELLA G., BOZZA A., MACDONALD M.E., GUSELLA J. and FRONTALI M.: Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. Hum. Mol. Genet., 1994, 3, 1129-1132.
7. n repeats causing Huntington's disease. Hum. Mol. Genet., 1993, 2, 637.
8. n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent «founder» HD haplotype. Hum. Mol. Genet., 1995, 4, 203-206.
9. SQUITIERI F., ANDREW S.E., GOLDBERG Y-P., FREMER B., SPENCE N., ZEISLER J., NICHOL K., THEILMANN J., GREENBERG J., GOTO J., KANAZAWA I., VESA J., PELTONEN L., ALMQVIST E., ANVRET M., TELENIUS H., LIN B., NAPOLITANO G., MORGAN K. and HAYDEN M.R.: DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum. Mol. Genet., 1994, 3, 2103-2114.
10. WARNER J.P., BARRON L.H. and BROCK D.J.H.: 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, 235-239.