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  Vol. 105 No. 8, August 1987 TABLE OF CONTENTS
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Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28

R. A. Lewis, J. D. Holcomb, W. C. Bromley, M. C. Wilson, T. H. Roderick and J. F. Hejtmancik

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.

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Molecular genetics of human blue cone monochromacy
Nathans et al.
Science 1989;245:831-838.
ABSTRACT  





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