INTERPHASE CYTOGENETICS: CHROMOSOME-SPECIFIC DNA PROBES

目前用于检测染色体异常的技术是 耗时且需要细胞培养和中期制备 染色体 间期细胞遗传学原位杂交 荧光标记的DNa探针可能是快速的，相对 价格便宜，并适合自动化。 90%以上的活产婴儿 染色体异常包括21、18、13和数字三体 X和Y的异常。 这项研究的目的是产生 单拷贝染色体特异性DNA探针，适用于检测 染色体21、18、13、X和Y的数目异常。 每个探针 一组将由每个所需染色体至少20 kb的独特DNA组成 乐队 通过初步评价的穿刺针组将作为 诊断试剂的盲法临床试验，最终目标是 提供快速、半自动的三体+ X和Y筛查， 临床实验室的诊断服务。 最终，探针适合 对于易位、缺失和完整核型的检测， 也会产生。

Current techniques for the detection of chromosome abnormalities are time consuming and require cell culture and preparation of metaphase chromosome. Interphase cytogenetics using in situ hybridization of fluorescent labeled DNa probes is potentially rapid, relatively inexpensive, and lends itself to automation. 90+% of all live born chromosomal abnormalities consist of trisomy 21, 18, 13 and numerical abnormalities of X and Y. It is the goal of this research to generate single copy chromosome-specific DNa probes suitable for detection of numerical abnormalities of chromosomes 21, 18, 13, X and Y. Each probe set will consist of at least 20 kb of unique DNA per desired chromosomal band. Probe sets that pass preliminary evaluation will be tested as a diagnostic reagent in a blind clinical trial, with the ultimate goal of offering a rapid, semi-automated trisomy + X and Y screen as a diagnostic service in a clinical laboratory. Eventually probes suitable for detection of translocations, deletions, and a full karyotype should also be generated.