Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere

T. Conrad Gilliam, Rudolph E. Tanzi, Jonathan L. Haines, Tom I. Bonner, Ann G. Faryniarz, Wendy J. Hobbs, Marcy E. MacDonald, Shirley V. Cheng, Susan E. Folstein, P. Michael Conneally, Nancy S. Wexler, James F. Gusella

Research output: Contribution to journalArticle

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Abstract

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder of late onset, characterized by progressive motor disturbance, psychological manifestations, and intellectual deterioration. The HD gene has been genetically mapped by linkage to the DNA marker D4S10, but the exact physical location of the HD defect has remained uncertain. To delineate critical recombination events revealing the physical position of the HD gene, we have identified restriction fragment length polymorphisms for two recently mapped chromosome 4 loci, RAF2 and D4S62, and determined the pattern of segregation of these markers in both reference and HD pedigrees. Multipoint linkage analysis of the new markers with D4S10 and HD establishes that the HD gene is located in a very small physical region at the tip of the chromosome, bordered by D4S10 and the telomere. A crossover within the D4S10 locus orients this segment on the chromosome, providing the necessary information for efficient application of directional cloning strategies for progressing toward, and eventually isolating, the HD gene.

Original languageEnglish
Pages (from-to)565-571
Number of pages7
JournalCell
Volume50
Issue number4
DOIs
StatePublished - Aug 14 1987

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Chromosomes, Human, Pair 4
Huntington Disease
Telomere
Chromosomes
Genes
Cloning
Pedigree
Polymorphism
Genetic Markers
Restriction Fragment Length Polymorphisms
Neurodegenerative Diseases
Genetic Recombination
Deterioration
Organism Cloning
Psychology
Defects
DNA

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

Cite this

Gilliam, T. C., Tanzi, R. E., Haines, J. L., Bonner, T. I., Faryniarz, A. G., Hobbs, W. J., ... Gusella, J. F. (1987). Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell, 50(4), 565-571. https://doi.org/10.1016/0092-8674(87)90029-8

Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. / Gilliam, T. Conrad; Tanzi, Rudolph E.; Haines, Jonathan L.; Bonner, Tom I.; Faryniarz, Ann G.; Hobbs, Wendy J.; MacDonald, Marcy E.; Cheng, Shirley V.; Folstein, Susan E.; Conneally, P. Michael; Wexler, Nancy S.; Gusella, James F.

In: Cell, Vol. 50, No. 4, 14.08.1987, p. 565-571.

Research output: Contribution to journalArticle

Gilliam, TC, Tanzi, RE, Haines, JL, Bonner, TI, Faryniarz, AG, Hobbs, WJ, MacDonald, ME, Cheng, SV, Folstein, SE, Conneally, PM, Wexler, NS & Gusella, JF 1987, 'Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere', Cell, vol. 50, no. 4, pp. 565-571. https://doi.org/10.1016/0092-8674(87)90029-8
Gilliam, T. Conrad ; Tanzi, Rudolph E. ; Haines, Jonathan L. ; Bonner, Tom I. ; Faryniarz, Ann G. ; Hobbs, Wendy J. ; MacDonald, Marcy E. ; Cheng, Shirley V. ; Folstein, Susan E. ; Conneally, P. Michael ; Wexler, Nancy S. ; Gusella, James F. / Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. In: Cell. 1987 ; Vol. 50, No. 4. pp. 565-571.
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