Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1

B E Nichols; R Bascom; M Litt; R McInnes; V C Sheffield; E M Stone

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Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1

Journal article

Peer reviewed

Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1

B E Nichols, R Bascom, M Litt, R McInnes, V C Sheffield and E M Stone

American journal of human genetics, Vol.54(1), pp.95-103

01/1994

PMCID: PMC1918069

PMID: 8279475

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Abstract

Vitelliform macular dystrophy (Best disease) is an autosomal dominant macular dystrophy which shares important clinical features with age-related macular degeneration, the most common cause of legal blindness in the elderly. Unfortunately, our understanding and treatment for this common age-related disorder is limited. Discovery of the gene which causes Best disease has the potential to increase our understanding of the pathogenesis of all types of macular degeneration, including the common age-related form. Best disease has recently been mapped to chromosome 11q13. The photoreceptor-specific protein ROM1 has also been recently mapped to this location, and the ROM1 gene is a candidate gene for Best disease. Using highly polymorphic markers, we have narrowed the genetic region which contains the Best disease gene to the 10-cM region between markers D11S871 and PYGM. Marker D11S956 demonstrated no recombinants with Best disease in three large families and resulted in a lod score of 18.2. In addition, a polymorphism within the ROM1 gene also demonstrated no recombinants and resulted in a lod score of 10.0 in these same three families. We used a combination of SSCP analysis, denaturing gradient gel electrophoresis, and DNA sequencing to screen the entire coding region of the ROM1 gene in 11 different unrelated patients affected with Best disease. No nucleotide changes were found in the coding sequence of any affected patient, indicating that mutations within the coding sequence are unlikely to cause Best disease.

Macular Degeneration - physiopathology

Membrane Proteins - genetics

Humans

Molecular Sequence Data

Male

Chromosome Mapping

DNA Primers

Macular Degeneration - genetics

Pedigree

Base Sequence

Female

Chromosomes, Human, Pair 11

Eye Proteins - genetics

Mutation

Tetraspanins

Details

Title: Subtitle: Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1
Creators: B E Nichols - Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City 52242
R Bascom
M Litt
R McInnes
V C Sheffield
E M Stone
Resource Type: Journal article
Publication Details: American journal of human genetics, Vol.54(1), pp.95-103
PMID: 8279475
PMCID: PMC1918069
NLM abbreviation: Am J Hum Genet
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: United States
Grant note: HG00457 / NHGRI NIH HHS P50HG00835 / NHGRI NIH HHS EY08426 / NEI NIH HHS
Language: English
Date published: 01/1994
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980385102771

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