IGENE(S) FOR PRIMARY CONGENITAL GLAUCOMA

描述：原发性先天性青光眼是一种常染色体隐性遗传病。 不明原因骨小梁发育缺陷所致疾病(S) 眼网和前房角。尽管PCG是最常见的形式 婴儿期青光眼的具体情况尚不清楚 尽管对不同的动物模型进行了研究，但胚胎的发病机制。 此外，尽管已经提出了单一染色体分配 没有任何方法可以通过临床、生化或任何方法来检测携带者 分子技术。治疗主要是外科手术，但成功率参差不齐， 因为可能需要不止一次手术干预才能控制 这些患者中的一些人的眼压。因此，有 与这种情况和目前的 可用的治疗方案。调查人员将应用基因和 物理作图策略分离PCG基因(S)。二 将使用互补连锁方法进行基因定位：外交系 “同胞对”法和纯合子作图的家系连锁研究。 后一种方法将利用沙特阿拉伯的血缘关系。 初步基因定位的替代策略将包括：(I) 等位基因频率相关的纯合性作图(AHM)和(Ii)等位基因频率相关的纯合作图 单个大样本中的患病个体和未患病个体的基因组DNA样本 血统。用于定位的其他传统测绘方法 克隆包括YAC重叠群构建、PFGE作图、EYE文库 筛选和外显子捕获。突变扫描检测方法包括 异源双链分析，错配碱基的化学切割，SSCP分析， DGGE，然后直接DNA测序将检测特定的突变。这个 PCG基因的鉴定对眼部和眼部都有潜在的意义 人的发展和有潜力提高人民的生活质量 受影响的个体。此外，它将使准确的 识别可能是这种疾病携带者的兄弟姐妹，并具有 修改或防止破坏性视觉后果的最终能力 在未来几代人中这种疾病的可能性。

DESCRIPTION: Primary Congenital Glaucoma (PCG) is an autosomal recessive disorder caused by unknown developmental defect(s) of the trabecular meshwork and anterior chamber angle. Although PCG is the most common form of glaucoma in infancy, nothing secure is known about its specific ambryologic pathogenesis despite studies of various animal models. Furthermore, although a single chromosomal assignment has been proposed there is no method to detect carriers by any clinical, biochemical or molecular techniques. Therapy is primarily surgical with variable success, as more than one surgical intervention might be necessary to control intraocular pressure in a number of these patients. Thus, there is significant morbidity associated with both this condition and the currently available treatment options. The investigators will apply genetic an physical mapping strategies to isolate the gene(s) for PCG. Two complementary linkage approaches to gene mapping will be used: outbred family linkage studies of the "sib pair" method and homozygosity mapping. The latter approach will utilize consanguineous Saudi Arabian pedigrees. Alternative strategies for initial gene localization will include: (I) allele-frequency dependent homozygosity mapping (AHM) and (ii) pooling of genomic DNA samples from affected and unaffected individuals in single large pedigrees. Other traditional mapping approaches to be use for positional cloning include YAC contig building, PFGE mapping, eye cDNA library screening, and exon trapping. Mutation scanning detection methods including heteroduplex analysis, chemical cleavage of mismatched bases, SSCP analysis, DGGE, and direct DNA sequencing will then detect specific mutations. The identification of a PCG gene has potent implications for both ocular and human development and have the potential to improve the quality of life of the affected individuals. Further, it will enable the accurate identification of siblings who may be carriers of the condition, and has the ultimate capacity to modify or prevent the devastating visual consequences of this disorder in future generations.