Serviço de Genética Médica, Hospital de Clínicas, Porto Alegre, RS, Brazil . ; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil .
Genet Mol Biol. 2014 Mar;37(1 Suppl):194-209. doi: 10.1590/s1415-47572014000200006.
The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. This technique has a wide range of applications that increased the dimension of chromosome analysis. The field of cytogenetics is particularly important for medical diagnostics and research as well as for gene ordering and mapping. Furthermore, the increased application of molecular biology techniques, such as array-based technologies, has led to improved resolution, extending the recognized range of microdeletion/microduplication syndromes and genomic disorders. In adopting these newly expanded methods, cytogeneticists have used a range of technologies to study the association between visible chromosome rearrangements and defects at the single nucleotide level. Overall, molecular cytogenetic techniques offer a remarkable number of potential applications, ranging from physical mapping to clinical and evolutionary studies, making a powerful and informative complement to other molecular and genomic approaches. This manuscript does not present a detailed history of the development of molecular cytogenetics; however, references to historical reviews and experiments have been provided whenever possible. Herein, the basic principles of molecular cytogenetics, the technologies used to identify chromosomal rearrangements and copy number changes, and the applications for cytogenetics in biomedical diagnosis and research are presented and discussed.
细胞遗传学领域主要研究染色体异常的数量、结构、功能和来源，以及染色体的进化。荧光分子的发展，无论是直接结合 DNA 还是通过中间分子结合 DNA，都导致了荧光原位杂交（FISH）技术的发展，该技术将细胞遗传学与分子遗传学联系起来。该技术具有广泛的应用，增加了染色体分析的维度。细胞遗传学在医学诊断和研究、基因排序和图谱绘制方面尤其重要。此外，分子生物学技术（如基于阵列的技术）的应用越来越广泛，提高了分辨率，扩展了微缺失/微重复综合征和基因组疾病的公认范围。在采用这些新扩展的方法时，细胞遗传学家使用了一系列技术来研究可见染色体重排与单核苷酸水平缺陷之间的关联。总的来说，分子细胞遗传学技术提供了大量潜在的应用，从物理图谱到临床和进化研究，为其他分子和基因组方法提供了强大而有信息的补充。本文并未详细介绍分子细胞遗传学的发展历史；然而，只要有可能，就提供了对历史综述和实验的参考文献。本文介绍并讨论了分子细胞遗传学的基本原理、用于识别染色体重排和拷贝数变化的技术，以及细胞遗传学在生物医学诊断和研究中的应用。
