Recent advances in molecular genetics of glaucomas
Recent advances in molecular genetics of glaucomas
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DOI：
10.1093/hmg/6.10.1667
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发表时间：
1997-01-01
影响因子：
3.5
通讯作者：
Sarfarazi, M
中科院分区：
文献类型：
--
作者：
Sarfarazi, M
青光眼是一组异质性眼部疾病，其表现从早在出生时到生命中非常晚的发病年龄，影响儿童和青少年的这些疾病的主要类型不太常见，但影响大于或等于70岁的老年人的青光眼的患病率逐渐上升至接近5%，三种类型青光眼的分子遗传学在过去几年中一直是研究的主题，因此，两个基因座（GLC3A和GLC3B）已被确定用于原发性先天性青光眼，一个位点（GLC1A）用于青少年发作的原发性开角型青光眼，另外两个位点（GLC1B和GLC1C）治疗迟发性慢性开角型青光眼，今年早些时候，第一组突变被描述在CYP1B1（细胞色素P4501B1）和TIGR（小梁网诱导的糖皮质激素反应蛋白）基因，分别用于GLC3A和GLC1A连锁家族，不同类型青光眼的定位和这两个基因的突变鉴定是本文的重点。
Glaucomas are a heterogeneous group of eye conditions with manifestation from as early as birth to very late age of onset in life, The primary type of these conditions affecting children and juveniles are less frequent, but the prevalence of glaucomas affecting older people of greater than or equal to 70 years progressively rises to similar to 5%, The molecular genetics of three types of glaucoma have been the subject of investigation in the last few years, As a result, two loci (GLC3A and GLC3B) have been identified for primary congenital glaucoma, one locus (GLC1A) for juvenile-onset primary open angle glaucoma and a further two loci (GLC1B and GLC1C) for late-onset chronic open angle glaucoma, Early this year, the first set of mutations was described in the CYP1B1 (Cytochrome P4501B1) and TIGR (Trabecular meshwork Inducible Glucocorticoid Response Protein) genes for the GLC3A and GLC1A-linked families, respectively, The mapping of different types of glaucoma and mutation identification in these two genes are the focus of this review.