POSITIONAL MAPPING OF PRIMARY CONGENITAL GLAUCOMA

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疾病基因的染色体位点。最近可用的1-5 cM的人类染色体的地图，连同新的进展，在位置映射和克隆提供了一个充分的机会，定位PCG基因的染色体位点。从PCG基因的定位和最终克隆中获得的知识可能有助于澄清这种疾病的病因，并可用于获得有关人眼生物学和功能的进一步信息。Mansoor Sarfarazi博士和他的同事现在已经确定了不同形式的青光眼中的许多遗传位点，包括原发性先天性青光眼，青少年原发性开角型青光眼和迟发性慢性开角型青光眼。 细胞色素P450- 1B 1和小梁网诱导糖皮质激素反应蛋白（TIGR）基因的突变已被确定，包括原发性先天性青光眼的两个位点和成人原发性开角型青光眼的四个位点。 Sarfarazi博士将继续进行家族性和先天性青光眼的研究，但他的建议的主要目的是在社区治疗的一系列患者中确定迟发性青光眼的特定异常，以估计普通人群中不同突变的患病率。

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.