青少年开角型青光眼：TIGR基因精细定位至1q24.3 - q25.2及突变分析
Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis.
作者信息
Michels-Rautenstrauss K G, Mardin C Y, Budde W M, Liehr T, Polansky J, Nguyen T, Timmerman V, Van Broeckhoven C, Naumann G O, Pfeiffer R A, Rautenstrauss B W
机构信息
Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nurnberg, Germany.
出版信息
Hum Genet. 1998 Jan;102(1):103-6. doi: 10.1007/s004390050661.
Autosomal dominant juvenile open angle glaucoma (JOAG) is an early-onset form of primary open angle glaucoma (POAG), which has been linked to chromosome 1q21-q31. Recently, mutations in the trabecular meshwork inducible glucocorticoid response gene (TIGR), one of the candidate genes mapped in this region, were identified in glaucoma patients of several families. We screened for mutations of the TIGR gene in two German families with JOAG and in 100 unselected sporadic cases of POAG. In the first family we identified a Pro370Leu mutation and in the second family a Gly367Arg mutation cosegregating with the glaucoma phenotype. No pathogenic mutation was found in 100 sporadic cases but a Tyr347Tyr polymorphism was found in two patients. Furthermore, fluorescence in situ hybridization (FISH) analysis was used to map a TIGR-specific yeast artificial chromosome to 1q24.3-q25.2.
常染色体显性青少年开角型青光眼（JOAG）是原发性开角型青光眼（POAG）的一种早发型形式，它与1号染色体1q21 - q31相关联。最近，在该区域定位的候选基因之一小梁网诱导糖皮质激素反应基因（TIGR）的突变，在几个家族的青光眼患者中被发现。我们对两个患有JOAG的德国家族以及100例未经选择的散发POAG病例进行了TIGR基因突变筛查。在第一个家族中，我们鉴定出一个Pro370Leu突变，在第二个家族中鉴定出一个与青光眼表型共分离的Gly367Arg突变。在100例散发病例中未发现致病突变，但在两名患者中发现了Tyr347Tyr多态性。此外，荧光原位杂交（FISH）分析被用于将一个TIGR特异性酵母人工染色体定位到1q24.3 - q25.2。
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