HUMAN TELOMERIC DNA PROBES FOR CYTOGENETIC DIAGNOSIS

描述（改编自申请人摘要）：分子细胞遗传学 在研究和临床上对染色体分析产生了重大影响 laboratories. 端粒和着丝粒一起定义了 每个染色体的极限。 染色体特异性着丝粒探针是 目前可用。 这些探针与染色体特异性 端粒探针，将允许检测所有主要易位 包括端粒和亚显微易位， 强烈表明是精神发育迟滞、不孕不育的常见原因 和流产，以及特定的人类癌症和白血病。 第一阶段的建议涉及开发染色体的可行性- 利用复杂的策略文库的特异性端粒探针， 分离克隆以构建重叠互补序列（重叠群）组， 分子探针染色体短臂上的端粒1（1 p），4 (4p)，和17（17 p）是第一阶段的目标。开发的探测器将 在各种临床样本上进行评估。多种颜色分析 将研究多个探针的同时检测。 完成 I期的研究将产生具有临床意义的人类原位探针， 端粒，并建立一种方法，将大大提高各级 分子探针的发展。

DESCRIPTION (Adapted from applicant's abstract):Molecular cytogenetics has had a major impact on chromosome analysis in both research and clinical laboratories. Telomeres, together with the centromere, define the physical limits of each chromosome. Chromosome-specific centromere probes are presently available. These probes, in conjunction with chromosome-specific telomere probes, would allow detection of all major translocations involving a telomere as well as submicroscopic translocations which are strongly indicated as a frequent cause of mental retardation, infertility and miscarriage, and specific human cancers and leukemias. The Phase I proposal addresses the feasibility of developing chromosome- specific telomeric probes utilizing a sophisticated strategy libraries to isolate clones for building sets of overlapping cosmids (contigs) to use as molecular probes. Teleomeres on the short arms of chromosome 1 (1p) , 4 (4p), and 17 (17p) are targeted for Phase I. Developed probes will be evaluated on a variety of clinical samples. Multiple color analysis for simultaneous detection of multiple probes will be investigated. Completion of Phase I will yield clinically-significant in situ probes for human telomeres and establish a methodology that will greatly enhance all levels of molecular probe development.