MOLECULAR CYTOGENETICS USING ALPHA SATELLITE DNA PROBES

数字染色体异常的诊断几乎是 基于有丝分裂染色体评价的不变性 使用染色体显带方便个人的恭维 染色体鉴定。染色体分析已经成为一种 许多医学领域的主要诊断工具，包括 产科、血液学、肿瘤学和临床遗传学。尽管 细胞遗传学领域的主要进展 染色体异常仍然是一项耗时和费力的工作- 由训练有素、技术娴熟的人员执行密集程序 技术专家。 这项研究提案的目的是测试 一种快速DNA杂交分子的研制 染色体综合征的细胞遗传学诊断试验。 将开发的测试是基于原位杂交 染色体特异性重复DNA探针到分裂或非分裂 细胞分裂与二倍体的快速灵敏检测 或通过免疫荧光或组织化学进行非整倍体 技巧。

Diagnosis of numerical chromosome abnormalities is almost invariable based on the evaluation of mitotic chromosome compliments using chromosome banding to facilitate individual chromosome identification. Chromosome analysis has become a major diagnostic tool in many areas of medicine including obstetrics, hematology, oncology, and clinical genetics. Despite major advances in the field of cytogenetics the diagnosis of chromosome abnormalities remains a time-consuming and labor- intensive procedure performed by highly trained and skilled technologists. The objective of this research proposal is to test the feasability of developing a rapid DNA hybridization-based molecular cytogenetic test for the diagnosis of chromosomal syndromes. The test to be developed is based upon hybridization in situ of chromosome specific repetitive DNA probes to dividing or non- dividing cells and on the rapid and sensitive detection of diploidy or aneuploidy by immunofluorescence or histochemical techniques.