POSITIONAL MAPPING OF PRIMARY CONGENITAL GLAUCOMA

对原发性先天性青光眼(PCG)家系的分子遗传学研究可用于确定该疾病基因的染色体位置。最近人类染色体1-5 cM图谱的出现以及位置定位和克隆方面的新进展为定位PCG基因的染色体位置提供了充足的机会。从PCG基因的定位和最终克隆中获得的知识可能有助于阐明这种情况的病因，并可能被用来获得关于人眼生物学和功能的进一步信息。Mansoor Sarfarazi博士和他的同事们现在已经在不同形式的青光眼中确定了一些基因位点，包括原发性先天性青光眼、青少年型原发性开角型青光眼和晚发性慢性开角型青光眼。细胞色素P450-1b1和小梁网诱导型糖皮质激素反应蛋白(TIGR)基因的突变已被鉴定，其中包括两个与原发性先天性青光眼相关的基因突变和四个与成人发病的原发性开角型青光眼相关的基因突变。萨法拉齐博士将继续开展关于家族性和先天性青光眼的研究，但他的提议现在的主旨是在社区接受治疗的一系列患者中识别晚发性青光眼的特定异常，以便估计不同突变在普通人群中的患病率。

Molecular genetic study of families with Primary Congenital Glaucoma (PCG) can be used to identify the chromosomal site of the disease gene. Recent availability of 1-5 cM maps of human chromosomes together with new advances in positional mapping and cloning has provided an ample opportunity for locating the chromosomal site of the PCG gene. The obtained knowledge from mapping and eventual cloning of the PCG gene may help to clarify the etiology of this condition and may be used to obtain further information about the biology and function of the human eye. Dr. Mansoor Sarfarazi and his associates have now identified a number of genetic loci in different forms of glaucoma, including primary congenital glaucoma, juvenile-onset primary open angle glaucoma, and late-onset chronic open angle glaucoma. Mutations in Cytochrome P450-1B1 and the Trabecular meshwork Inducible Glucocorticoid-Response Protein (TIGR) genes have been identified, including two loci for Primary Congenital Glaucoma and four loci for adult onset Primary Open Angle Glaucoma. Dr. Sarfarazi will continue to carry out studies on familial and congenital glaucoma, but the main thrust of his proposal is now to identify the specific abnormalities in late-onset glaucoma in a series of patients being treated in the community, in order to estimate the prevalence of different mutations in the general population.