Molecular cytogenetics: Diagnosis and prognostic assessment
Molecular cytogenetics: Diagnosis and prognostic assessment
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DOI：
10.1016/0958-1669(92)90006-5
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发表时间：
1992-01-01
影响因子：
7.7
通讯作者：
Pinkel, Daniel
中科院分区：
文献类型：
--
作者：
Gray, Joe W.;Kallioniemi, Ann;Pinkel, Daniel
这篇综述描述了用于检测和表征与人类疾病相关的遗传畸变的分子细胞遗传学技术。描述了荧光原位杂交、引物原位标记和比较基因组杂交技术，以及重复序列、整个染色体和特定基因座的探针。还回顾了这些技术在产前诊断和新生儿诊断以及人类恶性肿瘤特征描述中的应用。
This review describes molecular cytogenetic techniques for detection and characterization of genetic aberrations associated with human disease. The techniques of fluorescencein situhybridization, primedin situlabeling and comparative genome hybridization are described, as are probes for repeated sequences, whole chromosomes and specific loci. Also reviewed are applications of these technologies to pre-and neonatal diagnosis and to the characterization of human malignancies.