A GENE FOR CONGENITAL, RECESSIVE DEAFNESS DFNB3 MAPS TO THE PERICENTROMERIC REGION OF CHROMOSOME-17

被引：188

作者：

FRIEDMAN, TB

LIANG, Y

WEBER, JL

HINNANT, JT

BARBER, TD

WINATA, S

ARHYA, IN

ASHER, JH

机构：

[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

来源：

NATURE GENETICS | 1995年 / 9卷 / 01期

关键词：

D O I：

10.1038/ng0195-86

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

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页码：86 / 91

页数：6

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