Faculty Research 1980 - 1989
Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28.
Document Type
Article
Publication Date
1987
Keywords
Color-Blindness: fg, Eye-Diseases: fg, Female, Human, Linkage-(Genetics), Male, Pedigree, Recombination-Genetic, Restriction-Fragment-Length-Polymorphisms, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S, X-Chromosome
First Page
1055
Last Page
1059
JAX Source
Arch-Ophthalmol. 1987 Aug; 105(8):1055-9.
Grant
EY04340
Abstract
Blue cone monochromacy (BCM) is an infrequent X-linked retinal disorder typified by poor central visual acuity and color discrimination, early onset of nystagmus, variable degrees of myopia and astigmatism, and a nearly normal retinal appearance. The physiologic functions of rods and blue cones are preserved. The regional location of the genetic mutation causing BCM has been unknown. We have applied the modern molecular techniques of analysis of restriction fragment length polymorphisms to three multigenerational kindreds in which BCM is segregating. Significant linkage is established to two DNA markers, DXS15 and DXS52, each of which maps to the vicinity of Xq28. Regional localization of the locus for BCM has the potential to improve carrier detection and to provide antenatal diagnosis in families at risk for the disease.
Recommended Citation
Lewis RA,
Holcomb JD,
Bromley WC,
Wilson MC,
Roderick TH,
Hejtmancik JF.
Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28. Arch-Ophthalmol. 1987 Aug; 105(8):1055-9.