POSITIONAL MAPPING OF PRIMARY CONGENITAL GLAUCOMA

原发性先天性青光眼家系的分子遗传学研究 (PCG)可用于鉴定疾病基因的染色体位点。 最近可获得1-5 cM人类染色体图谱， 定位作图和克隆技术的新进展提供了一个充分的 定位PCG基因的染色体位点的机会。的 从PCG基因的定位和最终克隆中获得的知识可以 有助于澄清这种情况的病因，并可用于获得 进一步了解人眼的生物学和功能。 博士Mansoor Sarfarazi和他的同伙现在已经确定了一个数字 不同形式的青光眼，包括原发性青光眼， 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 细胞色素突变 P450- 1B 1与小梁网诱导的糖皮质激素反应 已经鉴定了TIGR蛋白基因，包括两个基因座， 原发性先天性青光眼与成人发病的四个位点 角型青光眼。 Sarfarazi博士将继续进行研究， 家族性和先天性青光眼，但他的建议的主旨 现在的目的是确定迟发性青光眼的特殊异常， 一系列在社区接受治疗的病人， 估计不同突变的普遍性， 人口

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.