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| MAPPING, CLONING AND GENETIC-CHARACTERIZATION OF THE REGION CONTAINING THE WILSON DISEASE GENE |
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| Author(s): PETRUKHIN K, FISCHER SG, PIRASTU M, TANZI RE, CHERNOV I, DEVOTO M, BRZUSTOWICZ LM, CAYANIS E, VITALE E, RUSSO JJ, MATSEOANE D, BOUKHGALTER B, WASCO W, FIGUS AL, LOUDIANOS J, CAO A, STERNLIEB I, EVGRAFOV O, PARANO E, PAVONE L, WARBURTON D, OTT J, PENCHASZADEH GK, SCHEINBERG IH, GILLIAM TC |
| Source: NATURE GENETICS Volume: 5 Issue: 4 Pages: 338-343 Published: DEC 1993 |
| Times Cited: 305 References: 24 |
| Abstract: Wilson disease (WD) is an autosomal recessive disorder of copper transport which maps to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families confined the disease locus to a single marker interval. A candidate cDNA clone was mapped to this interval which, as shown in the accompanying paper, is very likely the WD gene. Our haplotype and mutation analyses predict that approximately half of all WD mutations will be rare in the American and Russian populations. |
| Document Type: Article |
| Language: English |
Addresses:
1. COLUMBIA UNIV, DEPT PSYCHIAT, NEW YORK, NY 10032 USA
2. COLUMBIA UNIV, DEPT GENET & DEV, NEW YORK, NY 10032 USA
3. COLUMBIA UNIV, DEPT BIOCHEM & MOLEC BIOPHYS, NEW YORK, NY 10032 USA
4. COLUMBIA UNIV, DEPT MED, NEW YORK, NY 10032 USA
5. NEW YORK STATE PSYCHIAT INST & HOSP, NEW YORK, NY 10032 USA
6. NATL CTR STUDY WILSONS DIS, NEW YORK, NY USA
7. ST LUKES ROOSEVELT HOSP, NEW YORK, NY USA
8. IST RIC TALASSEMIE & ANEMIE MEDITERRANNEE, CAGLIARI, ITALY
9. HARVARD UNIV, SCH MED, DEPT NEUROSCI, BOSTON, MA USA
10. MOSCOW MED GENET RES CTR, MOSCOW, RUSSIA
11. UNIV CATANIA, PEDIAT CLIN, CATANIA, ITALY |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: ML145 |
| ISSN: 1061-4036 |
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