Linkage analysis in X-linked congenital stationary night blindness

M A Aldred, K L Dry, D M Sharp, D B Van Dorp, J Brown, L J Hardwick, D H Lester, F E Pryde, P W Teague, M Jay

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    Abstract

    X-linked congenital stationary night blindness (XL-CSNB) is a nonprogressive disorder of the retina, characterized by night blindness, reduced visual acuity, and myopia. Previous studies have localized the CSNB1 locus to the region between OTC and TIMP on the short arm of the X chromosome. We have carried out linkage studies in three XL-CSNB families that could not be classified as either complete or incomplete CSNB on the criteria suggested by Miyake et al. (1986. Arch. Ophthalmol. 104: 1013-1020). We used markers for the DXS538, DMD, OTC, MAOA, DXS426, and TIMP loci. Two-point analyses show that there is close linkage between CSNB and MAOA (theta max = 0.05, Zmax = 3.39), DXS426 (theta max = 0.06, Zmax = 2.42), and TIMP (theta max = 0.07, Zmax = 2.04). Two multiply informative crossovers are consistent with CSNB lying proximal to MAOA and distal to DXS426, respectively. Multipoint analysis supports this localization, giving the most likely order as DMD-17 cM-MAOA-7.5 cM-CSNB-7.5 cM-DXS426/TIMP-cen, and thus refines the localization of CSNB.

    Original languageEnglish
    Pages (from-to)99-104
    Number of pages6
    JournalGenomics
    Volume14
    Issue number1
    Publication statusPublished - Sep 1992

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    Night Blindness
    Myopia
    X Chromosome
    Visual Acuity
    Retina
    Congenital stationary night blindness

    Cite this

    Aldred, M. A., Dry, K. L., Sharp, D. M., Van Dorp, D. B., Brown, J., Hardwick, L. J., ... Jay, M. (1992). Linkage analysis in X-linked congenital stationary night blindness. Genomics, 14(1), 99-104.
    Aldred, M A ; Dry, K L ; Sharp, D M ; Van Dorp, D B ; Brown, J ; Hardwick, L J ; Lester, D H ; Pryde, F E ; Teague, P W ; Jay, M. / Linkage analysis in X-linked congenital stationary night blindness. In: Genomics. 1992 ; Vol. 14, No. 1. pp. 99-104.
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    abstract = "X-linked congenital stationary night blindness (XL-CSNB) is a nonprogressive disorder of the retina, characterized by night blindness, reduced visual acuity, and myopia. Previous studies have localized the CSNB1 locus to the region between OTC and TIMP on the short arm of the X chromosome. We have carried out linkage studies in three XL-CSNB families that could not be classified as either complete or incomplete CSNB on the criteria suggested by Miyake et al. (1986. Arch. Ophthalmol. 104: 1013-1020). We used markers for the DXS538, DMD, OTC, MAOA, DXS426, and TIMP loci. Two-point analyses show that there is close linkage between CSNB and MAOA (theta max = 0.05, Zmax = 3.39), DXS426 (theta max = 0.06, Zmax = 2.42), and TIMP (theta max = 0.07, Zmax = 2.04). Two multiply informative crossovers are consistent with CSNB lying proximal to MAOA and distal to DXS426, respectively. Multipoint analysis supports this localization, giving the most likely order as DMD-17 cM-MAOA-7.5 cM-CSNB-7.5 cM-DXS426/TIMP-cen, and thus refines the localization of CSNB.",
    author = "Aldred, {M A} and Dry, {K L} and Sharp, {D M} and {Van Dorp}, {D B} and J Brown and Hardwick, {L J} and Lester, {D H} and Pryde, {F E} and Teague, {P W} and M Jay",
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    Aldred, MA, Dry, KL, Sharp, DM, Van Dorp, DB, Brown, J, Hardwick, LJ, Lester, DH, Pryde, FE, Teague, PW & Jay, M 1992, 'Linkage analysis in X-linked congenital stationary night blindness', Genomics, vol. 14, no. 1, pp. 99-104.

    Linkage analysis in X-linked congenital stationary night blindness. / Aldred, M A; Dry, K L; Sharp, D M; Van Dorp, D B; Brown, J; Hardwick, L J; Lester, D H; Pryde, F E; Teague, P W; Jay, M.

    In: Genomics, Vol. 14, No. 1, 09.1992, p. 99-104.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Linkage analysis in X-linked congenital stationary night blindness

    AU - Aldred, M A

    AU - Dry, K L

    AU - Sharp, D M

    AU - Van Dorp, D B

    AU - Brown, J

    AU - Hardwick, L J

    AU - Lester, D H

    AU - Pryde, F E

    AU - Teague, P W

    AU - Jay, M

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    N2 - X-linked congenital stationary night blindness (XL-CSNB) is a nonprogressive disorder of the retina, characterized by night blindness, reduced visual acuity, and myopia. Previous studies have localized the CSNB1 locus to the region between OTC and TIMP on the short arm of the X chromosome. We have carried out linkage studies in three XL-CSNB families that could not be classified as either complete or incomplete CSNB on the criteria suggested by Miyake et al. (1986. Arch. Ophthalmol. 104: 1013-1020). We used markers for the DXS538, DMD, OTC, MAOA, DXS426, and TIMP loci. Two-point analyses show that there is close linkage between CSNB and MAOA (theta max = 0.05, Zmax = 3.39), DXS426 (theta max = 0.06, Zmax = 2.42), and TIMP (theta max = 0.07, Zmax = 2.04). Two multiply informative crossovers are consistent with CSNB lying proximal to MAOA and distal to DXS426, respectively. Multipoint analysis supports this localization, giving the most likely order as DMD-17 cM-MAOA-7.5 cM-CSNB-7.5 cM-DXS426/TIMP-cen, and thus refines the localization of CSNB.

    AB - X-linked congenital stationary night blindness (XL-CSNB) is a nonprogressive disorder of the retina, characterized by night blindness, reduced visual acuity, and myopia. Previous studies have localized the CSNB1 locus to the region between OTC and TIMP on the short arm of the X chromosome. We have carried out linkage studies in three XL-CSNB families that could not be classified as either complete or incomplete CSNB on the criteria suggested by Miyake et al. (1986. Arch. Ophthalmol. 104: 1013-1020). We used markers for the DXS538, DMD, OTC, MAOA, DXS426, and TIMP loci. Two-point analyses show that there is close linkage between CSNB and MAOA (theta max = 0.05, Zmax = 3.39), DXS426 (theta max = 0.06, Zmax = 2.42), and TIMP (theta max = 0.07, Zmax = 2.04). Two multiply informative crossovers are consistent with CSNB lying proximal to MAOA and distal to DXS426, respectively. Multipoint analysis supports this localization, giving the most likely order as DMD-17 cM-MAOA-7.5 cM-CSNB-7.5 cM-DXS426/TIMP-cen, and thus refines the localization of CSNB.

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    Aldred MA, Dry KL, Sharp DM, Van Dorp DB, Brown J, Hardwick LJ et al. Linkage analysis in X-linked congenital stationary night blindness. Genomics. 1992 Sep;14(1):99-104.