Francke U
Department of Genetics, Stanford University Medical Center, California 94305-5428, USA.
Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:34-43.
This article reviews the history of human cytogenetics with respect to technical advances from chromosome banding to molecular cytogenetics. Technologies such as in situ hybridization, chromosome painting, comparative genomic hybridization and interphase cytogenetics and their applications are discussed. The assignments of genes to chromosome regions by somatic cell genetics is illustrated by molecular analyses of somatic cell hybrid panels. The generation of complete physical maps of human chromosomes, by radiation hybrid mapping of sequence-tagged sites and establishment of chromosome-specific yeast artificial chromosome (YAC) banks and clone overlaps (contigs), is exemplified by studies of chromosome 18. The last section outlines the recent and future advances in clinical cytogenetics made possible by progress in molecular genetics.
本文回顾了人类细胞遗传学的历史，涉及从染色体显带到分子细胞遗传学的技术进展。讨论了诸如原位杂交、染色体描绘、比较基因组杂交和间期细胞遗传学等技术及其应用。通过体细胞杂交板的分子分析说明了通过体细胞遗传学将基因定位到染色体区域的过程。以18号染色体的研究为例，介绍了通过序列标签位点的辐射杂种图谱绘制以及建立染色体特异性酵母人工染色体（YAC）文库和克隆重叠群（重叠连续群）来生成人类染色体完整物理图谱的过程。最后一部分概述了分子遗传学进展为临床细胞遗传学带来的近期和未来进展。
