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Titolo:
MAP REFINEMENT OF LOCUS RP13 TO HUMAN-CHROMOSOME 17P13.3 IN A 2ND FAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Autore:
KOJIS TL; HEINZMANN C; FLODMAN P; NGO JT; SPARKES RS; SPENCE MA; BATEMAN JB; HECKENLIVELY JR;
Indirizzi:
UNIV CALIF LOS ANGELES,CTR HLTH SCI,JULES STEIN EYE INST,DEPT OPHTHALMOL,SCH MED,100 STEIN PLAZA LOS ANGELES CA 90095 UNIV CALIF LOS ANGELES,CTR HLTH SCI,JULES STEIN EYE INST,DEPT OPHTHALMOL,SCH MED LOS ANGELES CA 90095 UNIV CALIF LOS ANGELES,SCH MED,JULES STEIN EYE INST,VIS GENET CTR LOSANGELES CA 90024 UNIV CALIF LOS ANGELES,SCH MED,DEPT PEDIAT LOS ANGELES CA 90024 UNIV CALIF LOS ANGELES,SCH MED,DEPT MED LOS ANGELES CA 90024 UNIV CALIF IRVINE,DEPT PEDIAT IRVINE CA 92717 UNIV COLORADO,DEPT OPHTHALMOL DENVER CO 80202
Titolo Testata:
American journal of human genetics
fascicolo: 2, volume: 58, anno: 1996,
pagine: 347 - 355
SICI:
0002-9297(1996)58:2<347:MROLRT>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEGENERATION SLOW RDS; LINKAGE MAP; CGMP PHOSPHODIESTERASE; S-ANTIGEN; POLYMORPHISMS; SUBUNIT; GENE; TRANSDUCIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
39
Recensione:
Indirizzi per estratti:
Citazione:
T.L. Kojis et al., "MAP REFINEMENT OF LOCUS RP13 TO HUMAN-CHROMOSOME 17P13.3 IN A 2ND FAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA", American journal of human genetics, 58(2), 1996, pp. 347-355

Abstract

In order to elucidate the genetic basis of autosomal dominant retinitis pigmentosa (adRP) in a large eight-generation family (UCLA-RP09) ofBritish descent, we assessed linkage between the UCLA-RP09 adRP gene and numerous genetic loci, including eight adRP candidate genes, five anonymous adRP-linked DNA loci, and 20 phenotypic markers. Linkage to the UCLA-RP09 disease gene was excluded for all eight candidate genes analyzed, including rhodopsin (RP4) and peripherin/RDS (RP7), for the four adRP loci RP1, RP9, RP10 and RP11, as well as for 17 phenotypic markers. The anonymous DNA marker locus D17S938, linked to adRP locus RP13 on chromosome 17p13.1, yielded a suggestive but not statistically significant positive lod score. Linkage was confirmed between the UCLA-RP09 adRP gene and markers distal to D17S938 in the chromosomal legion 17p13.3. A reanalysis of the original RP13 data from a South AfricanadRP family of British descent, in conjunction with our UCLA-RP09 data, suggests that only one adRP locus exists on 17p but that it maps toa more telomeric position, at band 17p13.3, than previously reported. Confirmation of the involvement of RP13 in two presumably unrelated adRP families, both of British descent, suggests that this locus is a distinct adRP gene in a proportion of British, and possibly other, adRPfamilies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 10:27:24