INTERPHASE CYTOGENETICS: CHROMOSOME-SPECIFIC DNA PROBES

目前检测染色体异常的技术有 耗时长，需要细胞培养和中期分裂相的准备 染色体。间期细胞遗传学的原位杂交研究 荧光标记的DNA探针潜在地相对快速 价格低廉，并适合于自动化。90%以上的活产婴儿 染色体异常包括21、18、13三体和数字 X和Y的异常。这是本研究的目标是生成 单拷贝染色体特异DNA探针适用于检测 染色体21、18、13、X和Y的数目异常 SET将由每个所需染色体至少20kb的唯一DNA组成 乐队。通过初步评估的探针组将作为 盲目临床试验中的诊断试剂，最终目标是 提供快速、半自动的+X和Y三体屏幕 临床实验室的诊断服务。最终探头适合 对于易位、缺失和完全核型的检测， 也会被生成。

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.