Summary
Attempts to isolate the Huntington disease (HD) gene based on its position have been frustrated by apparently contradictory recombination events in HD pedigrees that have predicted two non-over-lapping candidate regions: 100 kb at the telomere of the short arm of chromosome 4, and a 2.2 Mb region located internally at 4p16.3. The proximal ___location is also supported by the detection of a linkage disequilibrium between HD and some restriction fragment length polymorphisms (RF-LPs) at the D4S95, D4S98, and D4S127 loci. In the present study, a proximal marker D4S95 showed tight linkage to the disease locus in Japanese pedigrees (Zmax=3.31,θ max=0.00), while distal markers D4S115 and D4S111 did not. Particularly, a two point linkage analysis between D4S111 and HD yielded a lod score −2.01 for θ=0.015. This result leads to the exclusion, as a possible region of localization of the HD gene, of more than 3 cM of the genome around D4S111 locus. At the same time our results favor aforementioned proximal ___location as a candidate ___location for the HD gene.
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Watanabe, M., Kondo, I., Nissato, S. et al. A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families. Jap J Human Genet 38, 193–201 (1993). https://doi.org/10.1007/BF01883710
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DOI: https://doi.org/10.1007/BF01883710
