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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1989 Mar;44(3):422–425.

Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90.

C Robbins 1, J Theilmann 1, S Youngman 1, J Haines 1, M J Altherr 1, P S Harper 1, C Payne 1, A Junker 1, J Wasmuth 1, M R Hayden 1
PMCID: PMC1715433  PMID: 2521771

Abstract

A DNA probe (D4S95) that detects a variable number of tandem repeats and a single-site-variation polymorphism after digestion with a single restriction enzyme, AccI, has previously been described. The order of this probe relative to the gene for Huntington disease (HD) and other previously described markers has not been established. Analysis of 24 affected families with HD has shown that D4S95 is in tight linkage with the gene causing HD, with a maximal Lod score of 12.489 at a theta of .03. D4S90 is a probe which maps to 4p16.3, telomeric to D4S95, and detects polymorphisms with HincII and other enzymes. In one affected person, recombination has occurred between D4S10 and HD, between D4S95 and HD, and in all likelihood also between D4S90 and HD, which strongly suggests that the gene for HD is telomeric to all these DNA probes. This suggests that the gene causing HD is located in the most distal region of the short arm of chromosome 4, flanked by D4S90 and the telomere, and supports the locus order D4S10-D4S95-D4S90-HD-telomere. D4S95 is a most useful DNA marker for predictive testing programs, while D4S90 will serve as a useful starting point for identifying DNA fragments closer to the gene for HD.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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