Rapid Human Sex Chromosomes Aneuploidy FISH Test

描述（由申请人提供）：荧光原位杂交（FISH）通常用于基因定位，检测致病性DNA，诊断由染色体畸变（如易位和基因扩增）引起的癌症和遗传疾病。由于越来越多地使用生殖辅助方法，例如体外受精，最近出现了FISH的一个相对新的应用。用于胚胎植入前遗传学诊断（PGD）， FISH已成为确定哪些受精胚胎最适合植入的关键技术。由于需要在发育的特定时间植入受精卵，FISH结果必须敏感且快速可用，需要新的试剂和程序。利用一种新的探针标记方法，本SBIR旨在开发一种快速灵敏的FISH检测方法，用于同时检测人类X和Y染色体，用于PGD和干细胞研究。这个SBIR项目的最终目标是为PGD开发一套完整的染色体特异性FISH探针。

DESCRIPTION (provided by applicant): Fluorescence in situ hybridization (FISH) is routinely used for gene mapping, detecting pathogenic DNA, and diagnosing cancers and genetic diseases resulting from chromosomal aberrations such as translocations and gene amplifications. As a result of increasing use of reproductive assistance methods, such as in vitro fertilization, a relatively new application of FISH has recently emerged. For use in Preimplantation Genetic Diagnosis, or PGD, FISH has become a critical technique for determining which fertilized embryos are the most suitable for implantation. Due to the need to implant fertilized eggs at a specific time in development, FISH results must be sensitive and rapidly available requiring new reagents and procedures. Using a novel probe labeling method, this SBIR aims to develop a rapid and sensitive FISH test for simultaneously detecting human X and Y chromosomes for PGD and stem cell research. The ultimate goal of this SBIR project is to develop a full set of chromosome specific FISH probes for PGD.