染色体研究与诊断中细胞基因组学方法协同作用的必要性

The Need for a Concert of Cytogenomic Methods in Chromosomic Research and Diagnostics.

作者信息

Wang Yiping, Liehr Thomas

机构信息

Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Am Klinikum 1, D-07747 Jena, Germany.

Jinze Group, Beijing Jinze Medical Laboratory, Building A, Beijing 102206, China.

出版信息

Genes (Basel). 2025 Apr 29;16(5):533. doi: 10.3390/genes16050533.

DOI:10.3390/genes16050533

PMID:40428355

Abstract

This review focuses on the experimental methods and technologies of cytogenomics and how they can be combined in the process of chromosomic diagnostics and research. It is stressed that no cytogenomic methods can be comprehensive on their own. The strengths and weaknesses of each method have to be considered. This is especially important in a time where the main stream of human genetics diagnostics is actively proclaiming that high throughput methods are able to replace all other established tests.

摘要

本综述聚焦于细胞基因组学的实验方法和技术，以及它们如何在染色体诊断和研究过程中相互结合。需要强调的是，没有任何一种细胞基因组学方法能够单独做到全面涵盖。必须考虑每种方法的优缺点。在人类遗传学诊断主流积极宣称高通量方法能够取代所有其他既定检测方法的当下，这一点尤为重要。