Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family

被引:13
作者
Gasparini, P
De Fazio, A
Croce, AI
Stanziale, P
Zelante, L [1 ]
机构
[1] IRCCS, CSS Hosp, Med Genet Serv, I-71013 San Giovanni Rotondo, Italy
[2] IRCCS, CSS Hosp, Dept Ophthalmol, San Giovanni Rotondo, Italy
关键词
Usher syndrome; deafness; retinitis pigmentosa;
D O I
10.1136/jmg.35.8.666
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher IU. locus on chromosome 3, as recently reported in a Finnish population.
引用
收藏
页码:666 / 667
页数:2
相关论文
共 11 条
[1]   Refined mapping of the usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region [J].
Joensuu, T ;
Blanco, G ;
Pakarinen, L ;
Sistonen, P ;
Kaariainen, H ;
Brown, S ;
DeLaChapelle, A ;
Sankila, EM .
GENOMICS, 1996, 38 (03) :255-263
[2]   A GENE FOR USHER SYNDROME TYPE-I (USH1A) MAPS TO CHROMOSOME-14Q [J].
KAPLAN, J ;
GERBER, S ;
BONNEAU, D ;
ROZET, JM ;
DELRIEU, O ;
BRIARD, ML ;
DOLLFUS, H ;
GHAZI, I ;
DUFIER, JL ;
FREZAL, J ;
MUNNICH, A .
GENOMICS, 1992, 14 (04) :979-987
[3]   LINKAGE OF USHER SYNDROME TYPE-I GENE (USH1B) TO THE LONG ARM OF CHROMOSOME-11 [J].
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 .
GENOMICS, 1992, 14 (04) :988-994
[4]   LOCALIZATION OF USHER SYNDROME TYPE-II TO CHROMOSOME-1Q [J].
KIMBERLING, WJ ;
WESTON, MD ;
MOLLER, C ;
DAVENPORT, SLH ;
SHUGART, YY ;
PRILUCK, IA ;
MARTINI, A ;
MILANI, M ;
SMITH, RJ .
GENOMICS, 1990, 7 (02) :245-249
[5]  
KIMBERLING WJ, 1995, AM J HUM GENET, V56, P216
[6]  
OTT J, 1992, ANAL HUMAN LINKAGE
[7]   ASSIGNMENT OF AN USHER SYNDROME TYPE-III (USH3) GENE TO CHROMOSOME 3Q [J].
SANKILA, EM ;
PAKARINEN, L ;
KAARIAINEN, H ;
AITTOMAKI, K ;
KARJALAINEN, S ;
SISTONEN, P ;
DELACHAPELLE, A .
HUMAN MOLECULAR GENETICS, 1995, 4 (01) :93-98
[8]   LOCALIZATION OF 2 GENES FOR USHER SYNDROME TYPE-I TO CHROMOSOME-11 [J].
SMITH, RJH ;
LEE, EC ;
KIMBERLING, WJ ;
DAIGER, SP ;
PELIAS, MZ ;
KEATS, BJB ;
JAY, M ;
BIRD, A ;
REARDON, W ;
GUEST, M ;
AYYAGARI, R ;
HEJTMANCIK, JF .
GENOMICS, 1992, 14 (04) :995-1002
[9]   CLINICAL-DIAGNOSIS OF THE USHER SYNDROMES [J].
SMITH, RJH ;
BERLIN, CI ;
HEJTMANCIK, JF ;
KEATS, BJB ;
KIMBERLING, WJ ;
LEWIS, RA ;
MOLLER, CG ;
PELIAS, MZ ;
TRANEBJAERG, L .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 50 (01) :32-38
[10]   CLINICAL VARIABILITY AND GENETIC-HETEROGENEITY WITHIN THE ACADIAN USHER POPULATION [J].
SMITH, RJH ;
PELIAS, MZ ;
DAIGER, SP ;
KEATS, B ;
KIMBERLING, W ;
HEJTMANCIK, JF .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (06) :964-969