Isolation and characterization of a candidate gene for Norrie disease. |
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| Authors: | Z Y Chen R W Hendriks M A Jobling J F Powell X O Breakefield K B Sims I W Craig |
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| Institution: | Department of Biochemistry, University of Oxford, UK. |
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| Abstract: | Previous analysis has refined the location of the gene for Norrie disease, a severe, X-linked, recessive neurodevelopmental disorder, to a yeast artificial chromosome subfragment of 160 kilobases (kb). This fragment was used to screen cDNA libraries from human fetal and adult retina. As a result, we have identified an evolutionarily conserved cDNA, which is expressed in fetal and adult brain and encodes a predicted protein of 133 amino acids. The cDNA detects genomic sequences which span a maximum of 50 kb, and which are partly deleted in several typical Norrie disease patients. An EcoRI polymorphism with a calculated heterozygosity value of 43% was observed. The locus identified is a strong candidate for the Norrie disease gene. |
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