TY - JOUR
T1 - Linkage studies of usher syndrome type 1
T2 - Exclusion results from the usher syndrome consortium
AU - Keats, Bronya J.B.
AU - Todorov, Alexander A.
AU - Atwood, Larry D.
AU - Pelias, Mary Z.
AU - Hejtmancik, J. Fielding
AU - Kimberling, William J.
AU - Leppert, Mark
AU - Lewis, Richard A.
AU - Smith, Richard J.H.
N1 - Funding Information:
This work was supported in part by grants from the National Retinitis Pigmentosa Foundation, Inc., Baltimore, Maryland (B.J.B.K., M.Z.P., J.F.H., W.J.K., M.L., R.A.L., R.J.H.S.), Research to Prevent Blindness, Inc., New York, New York (R.A.L., M.L.), and U.S. Public Health Service Grants HG00343 (B.J.B.K.) and DC00677 (W.J.K.). Cell cultures for part of this work were obtained from the Coriell Cell Repository, Camden, New Jersey. Some results in this paper were obtained with the program package S.A.G.E., which is supported by Resource Grant 1 P41 RR03655 from the Division of Research Resources, U.S. Public Health Service.
PY - 1992/11
Y1 - 1992/11
N2 - Usher Syndrome Type 1 is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of retinitis pigmentosa in childhood or early adolescence. Members of the Usher Syndrome Consortium, whose objective is to locate and isolate the genes for Usher syndrome, have pooled linkage data from 36 families with 111 affected individuals. We report the analysis of 206 blood group, protein, and DNA marker polymorphisms. No evidence of linkage heterogeneity among families was found for any of the markers studied; the negative lod scores exclude the locus for this disease from about 39% of the genome. Our results indicate the regions of the genome to which our continuing efforts should be directed.
AB - Usher Syndrome Type 1 is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of retinitis pigmentosa in childhood or early adolescence. Members of the Usher Syndrome Consortium, whose objective is to locate and isolate the genes for Usher syndrome, have pooled linkage data from 36 families with 111 affected individuals. We report the analysis of 206 blood group, protein, and DNA marker polymorphisms. No evidence of linkage heterogeneity among families was found for any of the markers studied; the negative lod scores exclude the locus for this disease from about 39% of the genome. Our results indicate the regions of the genome to which our continuing efforts should be directed.
UR - http://www.scopus.com/inward/record.url?scp=0026564250&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0026564250&partnerID=8YFLogxK
U2 - 10.1016/S0888-7543(05)80172-7
DO - 10.1016/S0888-7543(05)80172-7
M3 - Article
C2 - 1427898
AN - SCOPUS:0026564250
SN - 0888-7543
VL - 14
SP - 707
EP - 714
JO - Genomics
JF - Genomics
IS - 3
ER -