{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T17:52:31Z","timestamp":1760982751688,"version":"build-2065373602"},"reference-count":22,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,11]]},"abstract":"<jats:p>Analysis of many families with linked DNA markers has provided support for the Huntington's disease (HD) gene being close to the telomere on the short arm of chromosome 4. However, analysis of recombination events in particular families has provided conflicting results about the precise location of the HD gene relative to these closely linked DNA markers. Here we report an investigation of linkage disequilibrium between six DNA markers and the HD gene in 75 separate families of varied ancestry. We show significant non-random association between alleles detected at D4S95 and D4S98 and the mutant gene. These data suggest that it may be possible to construct high and low risk haplotypes, which may be helpful in DNA analysis and genetic counselling for HD, and represent independent evidence that the gene for HD is centromeric to more distally located DNA markers such as D4S90. This information may be helpful in defining a strategy to clone the gene for HD based on its location in the human genome.<\/jats:p>","DOI":"10.1136\/jmg.26.11.676","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"676-681","source":"Crossref","is-referenced-by-count":48,"title":["Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene."],"prefix":"10.1136","volume":"26","author":[{"given":"J","family":"Theilmann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Kanani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Shiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Robbins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Quarrell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Huggins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Hedrick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Weber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Collins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J J","family":"Wasmuth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/306234a0","article-title":"A polymorphic DNA marker genetically linked to Huntington disease","volume":"306","author":"lGusella JF; NS, Wexler; PM, Conneally","year":"1983","unstructured":"lGusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington disease. Nature 1983;306:234-9.","journal-title":"Nature"},{"key":"ref_2","first-page":"125","article-title":"A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington's disease genie","volume":"42","author":"Hayden, M.R.; Hewitt, J.; Wasmuth, J.J.","year":"1988","unstructured":"Hayden MR, Hewitt J, Wasmuth JJ, et al. A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington's disease genie. Amii J Hum Genet 1988;42:125-31.","journal-title":"Amii J Hum Genet"},{"key":"ref_3","first-page":"332","article-title":"A highly polymorphic locus very tightly linked to the Huntington's disease gene","volume":"1988","author":"J, Wasmuth J.J.Hewitt; B, Smith","unstructured":"Wasmuth JJ. Hewitt J, Smith B. et al. A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature 1988:332:734-6.","journal-title":"Nature"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1093\/nar\/16.4.1648","article-title":"A DNA probe (D4S90) mapping to human chromosome 4p16-3","volume":"16","author":"Youngman, S.; Shaw, D.J.; Gusella, J.F.","year":"1988","unstructured":"Youngman S, Shaw DJ, Gusella JF. et al. A DNA probe (D4S90) mapping to human chromosome 4p16-3. Nucleic Acids Res 1988;16:1648.","journal-title":"Nucleic Acids Res"},{"issue":"50","key":"ref_5","first-page":"565","article-title":"Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4SlO and the telomere","volume":"1987","author":"RE, Gilliam C.G.Tanzi; JL, Haines","unstructured":"Gilliam CG. Tanzi RE, Haines JL. et al. Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4SlO and the telomere. Cell 1987:50:565-1.","journal-title":"Cell"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"11769","DOI":"10.1093\/nar\/16.24.11769","article-title":"Mapping of D4S95\/S114\/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4","volume":"16","author":"Whaley, W.H.; Michiels, F.; MacDonald, M.E.","year":"1988","unstructured":"Whaley WH, Michiels F, MacDonald ME, et al. Mapping of D4S95\/S114\/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. Nucleic Acids Res 1988;16:11769-80.","journal-title":"Nucleic Acids Res"},{"key":"ref_7","first-page":"422","article-title":"A telomere clone likely to contain the mutant form of the Huntington's disease locus. Human Gene Mapping 10, 1989, A2354. Cytogenet Cell Genet","volume":"44","author":"Bates, G.; Baxendale, S.; Sedlacek, Z.","year":"1989","unstructured":"Bates G, Baxendale S, Sedlacek Z, et al. A telomere clone likely to contain the mutant form of the Huntington's disease locus. Human Gene Mapping 10, 1989, A2354. Cytogenet Cell Genet (in press). Robbins C, Theilmann J, Youngman S, et al. Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am J Hum Genet 1989;44: 422-5.","journal-title":"Am J Hum Genet; from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90"},{"article-title":"Recombination events suggest potential sites for the Huntington's disease gene","author":"MacDonald, M.E.; Haines, J.L.; Zimmer, M.","key":"ref_8","unstructured":"MacDonald ME, Haines JL, Zimmer M, et al. Recombination events suggest potential sites for the Huntington's disease gene. Neuron (in press)."},{"key":"ref_9","first-page":"76","article-title":"Frequent recombination is observed in the distal end of the long arm of chromosome 14","volume-title":"Genomics","volume":"4","author":"Nakamura, Y.; Lathrop, M.; O'Connell, P.","year":"1989","unstructured":"Nakamura Y, Lathrop M, O'Connell P, et al. Frequent recombination is observed in the distal end of the long arm of chromosome 14. Genomics 1989;4:76-81."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"50317","DOI":"10.1016\/S0022-2836(75)80083-0","article-title":"Detection of specific sequences among DNA fragments separated by gel electrophoresis","volume":"98","author":"Southern, E.","year":"1975","unstructured":"Southern E. Detection of specific sequences among DNA fragments separated by gel electrophoresis. 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Huntington's chorea in Victoria and Tasmania. J Neurol Sci 1964;1:405-20.","journal-title":"J Neurol Sci"},{"key":"ref_18","first-page":"197","article-title":"The origins of Huntington's chorea in the Afrikaner population of South Africa","volume":"58","author":"Hayden, M.R.; Hopkins, H.C.; Macrae, M.; Beighton, P.","year":"1980","unstructured":"Hayden MR, Hopkins HC, Macrae M, Beighton P. The origins of Huntington's chorea in the Afrikaner population of South Africa. S Afr Med J 1980;58:197-200.","journal-title":"S Afr Med J"},{"issue":"87","key":"ref_19","first-page":"1242","article-title":"Origin and migration of Huntington's chorea in Canada. Preliminary report","volume":"1952","author":"G, Barbeau A.Fulham","unstructured":"Barbeau A. Fulham G. Origin and migration of Huntington's chorea in Canada. Preliminary report. 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