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A GENE FOR CONGENITAL, RECESSIVE DEAFNESS DFNB3 MAPS TO THE PERICENTROMERIC REGION OF CHROMOSOME-17
Author(s): FRIEDMAN TB, LIANG Y, WEBER JL, HINNANT JT, BARBER TD, WINATA S, ARHYA IN, ASHER JH
Source: NATURE GENETICS    Volume: 9    Issue: 1    Pages: 86-91    Published: JAN 1995  
Times Cited: 123     References: 39     
Abstract: Two percent of the residents of Bengkala, Ball, have profound, congenital, neurosensory, nonsyndromal deafness due to an autosomal recessive mutation at the DFNB3 locus. We have employed a direct genome-wide disequilibrium search strategy, allele-frequency-dependent homozygosity mapping (AHM), and an analysis of historical recombinants to map DFNB3 and position the locus relative to flanking markers. DFNB3 maps to chromosome 17, closest to D17S261, pRM7-GT and D17S805. In individuals homozygous for DFNB3, historical recombinant genotypes for the flanking markers, D17S122 and D17S783, place DFNB3 in a 5.3 cM interval of the pericentromeric region of chromosome 17 on a refined linkage map of 17p-17q12. Based on conserved synteny, the murine sh2 gene may be the homologue of DFNB3.
Document Type: Article
Language: English
Reprint Address: FRIEDMAN, TB (reprint author), MICHIGAN STATE UNIV, GRAD PROGRAM GENET, E LANSING, MI 48824 USA
Addresses:
1. MICHIGAN STATE UNIV, DEPT ZOOL, E LANSING, MI 48824 USA
2. MARSHFIELD MED RES FDN, CTR MED GENET, MARSHFIELD, WI 54449 USA
3. MICHIGAN STATE UNIV, DEPT ANTHROPOL, E LANSING, MI 48824 USA
4. UDAYANA UNIV, FAC MED, DEPT MICROSCOP ANAT, DENPASAR, INDONESIA
5. UDAYANA UNIV, FAC MED, DEPT BIOCHEM, DENPASAR, INDONESIA
Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707
Subject Category: Genetics & Heredity
IDS Number: PZ913
ISSN: 1061-4036
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