Clinical and molecular cytogenetics and gene mapping: principles and techniques.

ABSTRACT

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.