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Titolo:
Autosomal dominant Stargardt-like macular dystrophy segregating in a largeCanadian family
Autore:
Lagali, PS; MacDonald, IM; Griesinger, IB; Chambers, ML; Ayyagari, R; Wong, PW;
Indirizzi:
Univ Alberta, Dept Sci Biol, Edmonton, AB T6G 2E9, Canada Univ Alberta Edmonton AB Canada T6G 2E9 iol, Edmonton, AB T6G 2E9, Canada Univ Alberta, Dept Ophthalmol, Edmonton, AB T6G 2E9, Canada Univ Alberta Edmonton AB Canada T6G 2E9 mol, Edmonton, AB T6G 2E9, Canada Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2E9, Canada Univ Alberta Edmonton AB Canada T6G 2E9 net, Edmonton, AB T6G 2E9, Canada Univ Michigan, WK Kellogg Eye Ctr, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 ogg Eye Ctr, Ann Arbor, MI 48109 USA
Titolo Testata:
CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE
fascicolo: 6, volume: 35, anno: 2000,
pagine: 315 - 324
SICI:
0008-4182(200010)35:6<315:ADSMDS>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONE-ROD DYSTROPHY; RECESSIVE RETINITIS-PIGMENTOSA; DISEASE GENE ABCR; FUNDUS-FLAVIMACULATUS; CHROMOSOME 6Q; RDS GENE; PERIPHERIN/RDS GENE; MUTATIONS; LOCUS; DEGENERATION;
Keywords:
macular dystrophy; genetics; linkage analysis; retinal diseases;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
44
Recensione:
Indirizzi per estratti:
Indirizzo: Wong, PW Univ Alberta, Dept Sci Biol, G-504 Biol Sci Bldg, Edmonton, AB T6G 2E9, Canada Univ Alberta G-504 Biol Sci Bldg Edmonton AB Canada T6G 2E9 anada
Citazione:
P.S. Lagali et al., "Autosomal dominant Stargardt-like macular dystrophy segregating in a largeCanadian family", CAN J OPHTH, 35(6), 2000, pp. 315-324

Abstract

Background: Inherited macular dystrophies account for a major fraction of the cases of retinal degenerative disease that lead to permanent blindness. We describe the clinical and genetic findings in a Canadian family with a form of macular dystrophy resembling autosomal dominant Stargardt-like macular dystrophy. Methods: Standard ophthalmologic examinations were performed in members ofa single five-generation Alberta family. Tests of visual acuity and colourvision, fundus photography, fluorescein angiography and electroretinography were performed in 15 affected people. Blood was collected from 24 family members, and DNA was extracted for genotyping. Genetic linkage analysis wasperformed using polymorphic short tandem repeat microsatellite markers located on chromosome 6q, a region containing loci for several macular disorders. Results: Affected family members display clinical characteristics resembling autosomal dominant Stargardt-like macular dystrophy, previously assignedto chromosome 6q (STGD3). Linkage analysis generated a peak lod score of 5.50 at an estimated recombination fraction of 0.00 for marker locus D6S300. Interpretation: The family described has an autosomal dominant macular dystrophy that resembles Stargardt-like macular dystrophy, The disease locus for this family maps to an interval on chromosome 6q that overlaps that for STGD3 and other retinal dystrophy loci. These findings provide further evidence that human chromosome 6q represents a "hot spot" for retinal disorders.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 13:27:17