Document Detail

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.
MedLine Citation:
PMID:  7951248     Owner:  NLM     Status:  MEDLINE    
Dominant optic atrophy, type Kjer (McKusick no. 165500) is an autosomal dominant eye disease. The disease is characterized by moderate to severe visual impairment with an insidious onset during the first decade of life, blue-yellow dyschromatopsia and centrocecal scotoma of varying density. We examined three extended Danish pedigrees using highly informative short tandem repeat polymorphisms and found linkage of the disease gene (OPA1) to a (CA)n dinucleotide repeat polymorphism at locus D3S1314 (Zmax = 10.34 at theta M = F = 0.075). Using two additional chromosome 3 markers we were able to map the OPA1 gene in the region between D3S1314 and D3S1265 (3q28-qter).
H Eiberg; B Kjer; P Kjer; T Rosenberg
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human molecular genetics     Volume:  3     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1994 Jun 
Date Detail:
Created Date:  1994-11-30     Completed Date:  1994-11-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  977-80     Citation Subset:  IM    
University Institute of Medical Biochemistry & Genetics, Department of Medical Genetics B24.4, Copenhagen, Denmark.
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MeSH Terms
Chromosome Mapping
Chromosomes, Human, Pair 3*
DNA Primers
DNA, Satellite / genetics
Genes, Dominant
Linkage (Genetics)*
Optic Atrophies, Hereditary / genetics*
Polymerase Chain Reaction
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid
Reg. No./Substance:
0/DNA Primers; 0/DNA, Satellite

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