This Article  • References  • Full text PDF  • Correction  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (28)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Linkage Analysis and Clinical Features in a Large British Pedigree

Robert L. Johnston, FRCOphth; Michael A. Burdon, FRCOphth; David J. Spalton, FRCOphth; Stephen P. Bryant, MSc; Joseph T. Behnam, PhD; Mary J. Seller, DSc

Arch Ophthalmol. 1997;115(1):100-103.

Abstract
Objectives
To perform DNA linkage studies in an extensive 5-generation British pedigree with dominant optic atrophy and to validate the efficacy of domiciliary screening for affected members.

Methods
Family members received a domiciliary examination based on corrected visual acuity, color vision, visual field defects, and optic disc appearance; DNA linkage analysis was performed using 7 microsatellite markers on 3q27-qter.

Results
Based on the results of the ophthalmic examination, 15 members could be classified as definitely affected, 1 probably affected, and 25 unaffected. Two-point linkage analysis gave significant maximum lod scores at u = 0.00, with the markers D3S3669, D3S3590, and D3S3642. A haplotype segregating with the disease was identified in affected individuals, including the probably affected subject. Informative meioses defined the disease interval between markers D3S1601 and D3S1265.

Conclusions
Domiciliary screening was effective in identifying all 16 affected members of a British family with dominant optic atrophy. The typical clinical features were present. The location of the OPA1 gene in this new British family seems to be in the 3q27-28 region and is the same as that reported in Danish, Cuban, and French families, suggesting no genetic heterogeneity in this disorder.

Author Affiliations
From the Department of Ophthalmology, St Thomas's Hospital (Drs Johnston, Burdon, and Spalton), and Division of Medical and Molecular Genetics, Guy's Hospital (Drs Behnam and Seller), London, England; and Human Genetic Resources Laboratory, Imperial Cancer Research Fund, South Mimms, England (Mr Bryant).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
Toomes et al.
Hum Mol Genet 2001;10:1369-1378.
ABSTRACT | FULL TEXT  

Genetic Heterogeneity of Dominant Optic Atrophy, Kjer Type: Identification of a Second Locus on Chromosome 18q12.2-12.3
Kerrison et al.
Arch Ophthalmol 1999;117:805-810.
ABSTRACT | FULL TEXT  

Clinical Features in Affected Individuals From 21 Pedigrees With Dominant Optic Atrophy
Votruba et al.
Arch Ophthalmol 1998;116:351-358.
ABSTRACT | FULL TEXT  

Genomic Mapping of Kjer Dominant Optic Atrophy
Wiggs
Arch Ophthalmol 1997;115:115-116.
ABSTRACT