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A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome |
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| Authors: | N T Bech-Hansen L L Field A M Schramm M Reedyk I W Craig N J Fraser W G Pearce |
| Institution: | (1) Alberta Children's Hospital Research Center and Department of Paediatrics, Alberta Children's Hospital and University of Calgary, Calgary, Alberta, Canada;(2) Department of Medical Biochemistry, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada;(3) High Level Medical Clinic, High Level, Alberta, Canada;(4) Department of Biochemistry, University of Oxford, Oxford, UK;(5) Department of Ophthalmology, University of Alberta, Edmonton, Alberta, Canada;(6) Alberta Children's Hospital Research Center, Richardson Wing, 1820 Richmond Road S.W., T2T5C7 Calgary, Alberta, Canada |
| Abstract: | Summary Linkage between X-linked congenital stationary night blindness (CSNB1) and seven markers on the X chromosome was investigated in a large four-generation Albertan kindred. We detected significant linkage between the CSNB1 locus and the locus DXS255 (maximum lod score = 6.73 at a recombination fraction of 6%; confidence interval of 1% to 18%), which anchors the CSNB1 locus to the proximal region near p11.22 on the short arm of the X chromosome. |
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