Construction of Human Genetic Linkage Maps: I. Progress and Perspectives

Abstract

Human genetics offers opportunities to the molecular biologist through the thousands of subtle genetic variants that have been detailed by thoughtful clinicians. These variants, called mutants in other systems, can provide important insights into the workings of complex biochemical and developmental systems. Some of these insights are reflected in the dramatic progress now taking place in the analysis of developmental mutants in Drosophila; in the human, a good example is the light shed on cell receptor and uptake systems by Brown and Goldstein in their analysis of mutations affecting the LDL receptor pathway (Goldstein et al. 1985). The use of mutational variants to provide insight into the workings of complex biochemical and developmental pathways is a classic theme in genetics.