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Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

Nature Genetics volume 6, pages 210–213 (1994)Cite this article

Abstract

Inherited retinal dystrophies are the most common cause of childhood blindness in the developed world. Cone–rod retinal dystrophies are severe examples of this group of disorders. Analysis of a large cone–rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p=0.008), a rare segregation distortion in human genetics. Two–point linkage analysis showed significant linkage with three markers mapping to chromosome 19q. Multipoint analysis gave a maximum lod score of 10.08 (θ=0.05) distal to D19S47. Cone–rod dystrophy is therefore assigned to 19q13.1–q13.2 and a new candidate locus for other retinal dystrophies is identified.

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Authors and Affiliations

  1. Department of Molecular Genetics, Institute of Ophthalmology, Bath Street, London, EC1V 9EL, UK

    Kevin Evans, Christopher Inglehearn, Cheryl Y. Gregory, Neil Ebenezer, David M. Hunt & Shomi Bhattacharya

  2. Department of Molecular Genetics, Institute of Child Health, RLCH Alder Hey, Eaton Road, Liverpool, L12 2AP, UK

    Kevin Evans, Alan Fryer, Joanne L. Whittaker & Rachel Butler

  3. Walton Hospital, Rice Lane, Liverpool, L9 1AE, UK

    Josephine Duvall-Young

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  1. Kevin Evans
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Evans, K., Fryer, A., Inglehearn, C. et al. Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet 6, 210–213 (1994). https://doi.org/10.1038/ng0294-210

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