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J. Bronwyn Bateman, Meriam Johannes, Pamela Flodman, David D. Geyer, Kevin P. Clancy, Camilla Heinzmann, Tracy Kojis, Rebecca Berry, Robert S. Sparkes, M. Anne Spence; A New Locus for Autosomal Dominant Cataract on Chromosome 12q13. Invest. Ophthalmol. Vis. Sci. 2000;41(9):2665-2670.
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purpose. To map the gene for autosomal dominant cataracts (ADC) in an American
white family of European descent.
methods. Ophthalmic examinations and linkage analyses using a variety of
polymorphisms were performed; two-point lod scores calculated.
results. Affected individuals (14 studied) exhibited variable expressivity of
embryonal nuclear opacities based on morphology, location within the
lens, and density. This ADC locus to 12q13 was mapped on the basis of
statistically significantly positive lod scores and no recombinations
(θm = θf = 0) with markers
D12S368, D12S270, D12S96, D12S359, D12S1586, D12S312, D12S1632, D12S90,
and D12S83; assuming full penetrance, a maximum lod score of 4.73 was
calculated between the disease locus and D12S90.
conclusions. The disease in this family represents the first ADC locus on chromosome
12; major intrinsic protein of lens fiber (MIP)
is a candidate gene.
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