Crucial for the highly regulated and coordinated paracellular transport are tight junctions, which are continuous networks of interconnected parallel strands at the apical cell poles of adjacent cells.
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Congenital cataract is a common major abnormality of the eye, which can result in significant visual impairment or blindness in childhood.
In this work, we studied four generations of a Chinese family that exhibited autosomal dominant coralliform cataract but no other ocular or systemic abnormalities.
Members of the family were firstly genotyped with microsatellite markers at loci associated with congenital cataract on the reported regions of chromosomes 1, 2, 3, 10, 11, 12, 13, 15, 16, 17, 20, 21, and 22, but negative LOD scores were obtained.
Following exclusion of these loci, a genome-wide scan was performed, and significant evidence of linkage was obtained for marker D2S2211 ( = 2.69, θ = 0.00).
In multipoint analysis, a maximum LOD score 4.87 (θ = 0.00) was reached between markers D2S2211 and D2S2164.
Haplotype data indicated a coralliform cataract disease gene in a 26-c M interval at a novel disease locus 2p24-pter between D2S297 and D2S2268.No genes related to cataract in this region have been reported so far.Tight junctions are unique organelles in epithelial cells.They are localized to the apico-lateral region and essential for the epithelial cell transport functions.The paracellular transport process that occurs via tight junctions is extensively studied and is intricately regulated by various extracellular and intracellular signals.Fine regulation of this transport pathway is crucial for normal epithelial cell functions.