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Original articles Gene mutation in patients with primary open2angle glaucoma in a pedigree in China

葛坚GE Jian ZHUO Yehong GUO Yan MING Wengyu and YIN Wei

Chinese Medical Journal 2000 ; 113 ( 3) : 195-197,-0001,():

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摘要/描述

Objective To inve stigate the genetic ba sis of the pathogene sis of a Guangzhou (GZ11) pedigree with primary open-angle glaucoma (POAG) 1 Methods DNA fragment s of the trabecular me shwork inducible glucocorticoid re sponse protein (TIGR) gene from 4 typical POAG patient s and 2 normal subjects were amplified by polymera se chain reaction ( PCR) 1 The amplified PCR fragment wa s cloned into a pT2Adv vector , and direct sequencing wa s carried out on an ABI2373 automated DNA sequencer using dye-terminator chemistry to detect the mutation1 Re s ult s  The TIGR gene mutation wa s identified in the selected subject s of this pedigree1 This mutation is a “C2to2T”transition at po sition 370 , different from that of we stern countrie s and equivalent to the po sition change found in J apane se patient s with familial POAG1 No mutation wa s found in the TIGR gene fragment in 2 normal subject s of the pedigree1 Co nclus io ns  The se preliminary re sult s provide insight s into the pathogene sis of POAG by the TIGR gene mutation , and into the underlying action of the different mutations in oriental and we stern peoples.

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