One of the great success stories of modern molecular genetics has been
the ability of biologists to isolate and characterize the genes respo
nsible for serious inherited diseases like Huntington's disease, cysti
c fibrosis and myotonic dystrophy. Instrumental in these efforts has b
een the construction of so-called physical maps of regions of human ch
romosomes. A major goal of the Human Genome Project is to construct ph
ysical maps of the entire human genome. Such maps will reduce the time
and expense required to isolate and study interesting chromosomal reg
ions by many orders of magnitude. This article describes what physical
maps are and how they have been used, and it outlines some of the sta
tistical issues involved in making them.