Document Detail


Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1).
MedLine Citation:
PMID:  7977377     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
X-linked progressive cone dystrophy (COD1) causes progressive deterioration of visual acuity, deepening of central scotomas, macular changes, and bull's-eye lesions. The cone electroretinography (ERG) is variably abnormal in affected males, and the rod ERG may also be abnormal. The clinical picture of heterozygous females ranges from asymptomatic to a widespread spectrum of cone-mediated dysfunction. A prior linkage study demonstrated linkage between the COD1 locus and the marker locus DXS84, assigned to Xp21.1, with no recombination. In the present study, we have clinically characterized a large four-generation family with COD1 and have performed a linkage analysis using seven polymorphic markers on the short arm of the X chromosome. No recombination was observed between the disease and the marker loci DXS7 and MAOA, suggesting that the location of COD1 is in the region Xp11.3, distal to DXS84 and proximal to ARAF1.
Authors:
H K Hong; R E Ferrell; M B Gorin
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  55     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1994 Dec 
Date Detail:
Created Date:  1994-12-27     Completed Date:  1994-12-27     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1173-81     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA.
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MeSH Terms
Descriptor/Qualifier:
Child
Chromosome Mapping
Female
Fundus Oculi
Genetic Markers
Humans
Linkage (Genetics)*
Male
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic / genetics
Polymorphism, Restriction Fragment Length
Recombination, Genetic
Retinal Cone Photoreceptor Cells / pathology*
Retinitis Pigmentosa / genetics*,  pathology
Sex Characteristics
X Chromosome / genetics*
Chemical
Reg. No./Substance:
0/Genetic Markers
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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