POSITIONAL MAPPING OF PRIMARY CONGENITAL GLAUCOMA

原发性先天性青光眼（PCG）家族的分子遗传学研究可用于确定该疾病基因的染色体位点。最近人类染色体1-5厘米图谱的可用性，以及定位图谱和克隆技术的新进展，为定位PCG基因的染色体位置提供了充分的机会。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许多不同形式青光眼的基因位点，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P450-1B1和小梁网诱导型糖皮质激素反应蛋白（TIGR）基因突变已被发现，包括2个原发性先天性青光眼基因位点和4个成人原发性开角型青光眼基因位点。Sarfarazi博士将继续开展家族性和先天性青光眼的研究，但他的建议的主要目的是确定在社区中接受治疗的一系列晚发性青光眼患者的具体异常情况，以估计不同突变在一般人群中的患病率。

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.