First Author | Whaley WL | Year | 1988 |
Journal | Nucleic Acids Res | Volume | 16 |
Issue | 24 | Pages | 11769-80 |
PubMed ID | 2905444 | Mgi Jnum | J:9542 |
Mgi Id | MGI:58002 | Doi | 10.1093/nar/16.24.11769 |
Citation | Whaley WL, et al. (1988) Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. Nucleic Acids Res 16(24):11769-80 |
abstractText | The dominant gene defect in Huntington's disease (HD) is linked to the DNA marker D4S10, near the telomere of the chromosome 4 short arm. Two other markers, D4S43 and D4S95, are closer, but still proximal to the HD gene in 4p16.3. We have characterized a new locus, D4S114, identified by cloning the end of a NotI fragment resolved by pulsed-field gel electrophoresis. D4S114 was localized distal to D4S43 and D4S95 by both physical and genetic mapping techniques. The end-clone overlaps a previously isolated NotI linking clone, and is within 150 kb of a second linking clone defining D4S113. Restriction fragment length polymorphisms for D4S113 and D4S114, one of which is identical to a SacI polymorphism detected by the anonymous probe pBS731B-C (D4S98), were typed for key crossovers in HD and reference pedigrees. The data support the locus order D4S10-(D4S43, D4S95)-D4S98/S114/S113-HD-telomere. The D4S98/S114/S113 cluster therefore represents the nearest cloned sequences to HD, and provides a valuable new point for launching directional cloning strategies to isolate and characterize this disease gene. |