LINKAGE OF USHER SYNDROME TYPE-I GENE (USH1B) TO THE LONG ARM OF CHROMOSOME-11

被引:142
作者
KIMBERLING, WJ
MOLLER, CG
DAVENPORT, S
PRILUCK, IA
BEIGHTON, PH
GREENBERG, J
REARDON, W
WESTON, MD
KENYON, JB
GRUNKEMEYER, JA
DAHL, SP
OVERBECK, LD
BLACKWOOD, DJ
BROWER, AM
HOOVER, DM
ROWLAND, P
SMITH, RJH
机构
[1] LINKOPING UNIV HOSP, DEPT OTOLARYNGOL, S-58185 LINKOPING, SWEDEN
[2] SENSORY GENET DEV, BLOOMINGTON, MN 55437 USA
[3] CREIGHTON UNIV, SCH MED, DEPT OPHTHALMOL, OMAHA, NE 68131 USA
[4] UNIV CAPE TOWN, SCH MED,DEPT HUMAN GENET,MRC, INHERITED SKELETAL DISORDERS RES UNIT, CAPE TOWN 7925, SOUTH AFRICA
[5] INST CHILD HLTH, DEPT PEDIAT, LONDON WC1N 1EH, ENGLAND
[6] ST JOSEPHS SCH DEAF BOYS, DUBLIN, IRELAND
[7] UNIV IOWA, DEPT OTOLARYNGOL, MOLEC OTOLARYNGOL RES LABS, IOWA CITY, IA 52242 USA
关键词
D O I
10.1016/S0888-7543(05)80121-1
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five different genes responsible for at least two closely related phenotypes. The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes. This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527. Another USH1 gene had been previously localized to chromosome 14q, and this second localization establishes the existence of a new and independent locus for Usher syndrome. © 1992 Academic Press, Inc. All rights reserved.
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收藏
页码:988 / 994
页数:7
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