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G. Kumaramanickavel, S. Sripriya, V.L. Ramprasad, G.J. Ronnie, A. Hemamalini, S. Saxena, L. Vijaya; Congenital microcoria gene:Linkage homogeneity to locus 13q31–32 . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4757.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Congenital microcoria is an autosomal dominant developmental disorder of the iris, associated with myopia and juvenile open angle glaucoma. In a French family it was linked to chromosome 13. An Asian Indian three generation 16 member affected family with congenital microcoria was studied for gene mapping. Methods: Twenty four members of the family were clinically examined and DNA was extracted. Fluorescent microsatellite markers in the region13q31–32 were PCR amplified and analyzed using GeneScan in ABI Prism 310 genetic analyzer. Alleles were genotyped and two point linkage analysis was performed using MLINK/ILINK programs. Results: A Zmax of 2.18 (θ=0.06) was obtained for the marker D13S265. On fine mapping with higher density markers a Zmax of 4.25 (θ=0.01) was obtained for the DCT dinucleotide repeat marker (Allele set GDB ID: 381742) in 13q31–32 region. Conclusion:Congenital microcoria gene is located in the chromosomal region 13q31–32 in an Indian family, establishing homogeneity of the locus. Candidate gene screening is in progress.
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