Localization of a Novel X-Linked Progressive Cone Dystrophy Gene to Xq27: Evidence for Genetic Heterogeneity

Clinical reexamination and DNA linkage analysis were carried out in an X-linked progressive cone dystrophy (XLPCD) family, previously described by Pinckers and Timmerman in 1981. In a large pedigree segregating XLPCD, by use of ≥ 27 markers spanning the entire X chromosome, a novel locus for XLPCD w...

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Bibliographic Details
Published inAmerican journal of human genetics Vol. 60; no. 6; pp. 1468 - 1473
Main Authors Bergen, A.A.B., Pinckers, A.J.L.G.
Format Journal Article
LanguageEnglish
Published Chicago, IL Elsevier Inc 01.06.1997
University of Chicago Press
Subjects
Biological and medical sciences
Chromosome Mapping
Color Perception
Female
Genetic Linkage
Genetic Markers
Humans
Lod Score
Male
Medical sciences
Myopia
Ophthalmology
Pedigree
Retinal Cone Photoreceptor Cells
Retinal Diseases - genetics
Retinopathies
Syndrome
Visual Acuity
X Chromosome
Genetic mapping
Human
Sex linked character
Retinopathy
Cone
Linkage
Long arm
Family study
Genetic disease
Progressive
Eye disease
Genetics
X-Chromosome
Dystrophy
Locus
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Summary:Clinical reexamination and DNA linkage analysis were carried out in an X-linked progressive cone dystrophy (XLPCD) family, previously described by Pinckers and Timmerman in 1981. In a large pedigree segregating XLPCD, by use of ≥ 27 markers spanning the entire X chromosome, a novel locus for XLPCD was identified in Xq27. All other regions on the chromosome could be excluded. Since this novel locus is distinct from pre- viously identified genes or regions involved in XLPCD, we further establish genetic heterogeneity underlying
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ISSN:0002-9297
1537-6605
DOI:10.1086/515458