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REFINEMENT OF THE MULTIPLE EXOSTOSES LOCUS (EXT2) TO A 3-CM INTERVAL ON CHROMOSOME-11
Author(s): WUYTS W, RAMLAKHAN S, VANHUL W, HECHT JT, VANDENOUWELAND AMW, RASKIND WH, HOFSTEDE FC, REYNIERS E, WELLS DE, DEVRIES B, CONRAD EU, HILL A, ZALATAYEV D, WEISSENBACH J, WAGNER MJ, BAKKER E, HALLEY DJJ, WILLEMS PJ
Source: AMERICAN JOURNAL OF HUMAN GENETICS    Volume: 57    Issue: 2    Pages: 382-387    Published: AUG 1995  
Times Cited: 41     References: 24     
Abstract: Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least three loci involved: one (EXT1) in the Langer-Giedion region on 8q23-q24, a second (EXT2) in the pericentromeric region of chromosome 11, and a third (EXT3) on chromosome 19p. In this study, linkage analysis in seven extended EXT families, all linked to the EXT2 locus, refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S13G1/D11S554. This implies that the EXT2 gene is located at the short arm of chromosome 11, in band 11p11-p12. The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene.
Document Type: Article
Language: English
Addresses:
1. UNIV ANTWERP, DEPT MED GENET, B-2610 ANTWERP, BELGIUM
2. ERASMUS UNIV ROTTERDAM, DEPT CLIN GENET, ROTTERDAM, NETHERLANDS
3. UNIV ROTTERDAM HOSP, ROTTERDAM, NETHERLANDS
4. UNIV TEXAS, HLTH SCI CTR, DEPT PEDIAT, HOUSTON, TX USA
5. UNIV HOUSTON, DEPT BIOL, HOUSTON, TX USA
6. UNIV HOUSTON, INST MOLEC BIOL, HOUSTON, TX USA
7. UNIV WASHINGTON, DEPT MED, SEATTLE, WA USA
8. UNIV WASHINGTON, DEPT ORTHOPAED, SEATTLE, WA USA
9. LEIDEN UNIV, DEPT HUMAN GENET, LEIDEN, NETHERLANDS
10. RUSSIAN ACAD MED SCI, MED GENET RES CTR, MOSCOW, RUSSIA
11. GENETHON, EVRY, FRANCE
Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637
Subject Category: Genetics & Heredity
IDS Number: RL771
ISSN: 0002-9297
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