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| LINKAGE OF AN IMPORTANT GENE LOCUS FOR TUBEROUS SCLEROSIS TO A CHROMOSOME 16 MARKER FOR POLYCYSTIC KIDNEY-DISEASE |
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| Author(s): KANDT RS, HAINES JL, SMITH M, NORTHRUP H, GARDNER RJM, SHORT MP, DUMARS K, ROACH ES, STEINGOLD S, WALL S, BLANTON SH, FLODMAN P, KWIATKOWSKI DJ, JEWELL A, WEBER JL, ROSES AD, PERICAKVANCE MA |
| Source: NATURE GENETICS Volume: 2 Issue: 1 Pages: 37-41 Published: SEP 1992 |
| Times Cited: 189 References: 43 |
| Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of unknown aetiology that affects numerous body systems including skin, brain and kidneys. Some TSC has been linked to chromosome 9, additional TSC genes on chromosomes 11 and 12 have been proposed, but the majority of TSC families remain unlinked. Using TSC families in which data had excluded linkage to chromosome 9, we failed to detect linkage with loci on chromosomes 11, 12 and others. One marker examined was D16S283, the closest locus on the proximal side of the polycystic kidney disease type 1 (PKD1) gene. Linkage between TSC and D16S283 demonstrated a lod score of 9.50 at THETA = 0.02 with one family independently presenting a lod score of 4.44 at THETA = 0.05. These data reveal an important TSC locus near the region of PKD1 on chromosome 16p13. |
| Document Type: Article |
| Language: English |
| Reprint Address: KANDT, RS (reprint author), UNIV N CAROLINA, MED CTR, DEPT PEDIAT, DIV NEUROL, DURHAM, NC 27710 USA |
Addresses:
1. MASSACHUSETTS GEN HOSP, MOLEC NEUROGENET LAB, CHARLESTON, MA 02129 USA
2. UNIV CALIF IRVINE, DEPT PEDIAT, IRVINE, CA 92717 USA
3. UNIV TEXAS, SCH MED, DEPT PEDIAT, DIV MED GENET, HOUSTON, TX 77030 USA
4. UNIV OTAGO, DEPT PEDIAT & CHILD HLTH, DUNEDIN, NEW ZEALAND
5. UNIV TEXAS, HLTH SCI CTR, SW MED SCH, DIV PEDIAT NEUROL, DALLAS, TX 75235 USA
6. UNIV VIRGINIA, DEPT PEDIAT, CHARLOTTESVILLE, VA 22908 USA
7. BRIGHAM & WOMENS HOSP, DIV EXPTL MED & HEMATOL ONCOL, BOSTON, MA 02115 USA
8. MARSHFIELD MED RES FDN, MARSHFIELD, WI 54449 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: JM646 |
| ISSN: 1061-4036 |
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