High-resolution chromosome analysis in clinical medicine.
High-resolution chromosome analysis in clinical medicine.
复制标题
临床医学中的高分辨率染色体分析。
DOI：
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发表时间：
1978
期刊：
影响因子：
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通讯作者：
M. E. Chandler
中科院分区：
文献类型：
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作者：
J. Yunis;M. E. Chandler
人类细胞遗传学领域在过去几年中有了相当大的发展，在很大程度上是由于中期条带技术的应用。在许多进展中，涉及三十多种新发现综合征的染色体异常已经被定义，并且在一些肿瘤中观察到一致的染色体缺陷。最近通过细胞同步和染色体处理的培养技术的改进，例如使用最低限度的暴露于colcolid和/或使用抑制染色体凝聚的药物，允许常规利用高度细长和细带状的前期染色体。这些新技术在临床上被用于发现以前无法检测到的染色体缺陷，定位人类已知的许多复制缺陷所涉及的确切断点，并在精细水平上建立可能的表型-基因型关系。
The field of human cytogenetics has expanded considerably in the past few years due, to a large extent, to the application of the metaphase banding techniques. Among many advances, the chromosomal abnormalities involved in over thirty newly discovered syndromes have been defined and consistent chromosome defects have been observed in several neoplasias. Very recent improvements in culture techniques through cell synchronization and in chromosome treatments, such as the use of minimal exposure to colcemid and/or the use of agents that inhibit chromosome condensation, allow for the routine utilization of highly elongated and finely banded prophase chromosomes. These new techniques are being used clinically to uncover previously undetectable chromosome defects, to localize the exact break points involved in numerous duplication-deficiencies known in man, and to establish possible phenotype-genotype relationships at a refined level.