A Comprehensive Human Linkage Map with Centimorgan Density

TLDR

Rapid advances in human genetic mapping have improved our ability to localize and identify genes for inherited disorders. This study presents a comprehensive human linkage map generated through collaborative efforts of three large groups and 110 CEPH collaborators. Microsatellite markers were produced by these groups and collaborators to construct the map. The resulting map contains 5,840 loci, including 970 uniquely ordered loci, 3,617 PCR‑formatted short tandem repeat polymorphisms, 427 genes, spans 4,000 centimorgans, and has an average marker density of 0.7 centimorgan, providing a high‑density resource for genetic and physical map integration.

Abstract

In the last few years there have been rapid advances in developing genetic maps for humans, greatly enhancing our ability to localize and identify genes for inherited disorders. Through the collaborative efforts of three large groups generating microsatellite markers and the efforts of the 110 CEPH collaborators, a comprehensive human linkage map is presented here. It consists of 5840 loci, of which 970 are uniquely ordered, covering 4000 centimorgans on the sex-averaged map. Of these loci, 3617 are polymerase chain reaction-formatted short tandem repeat polymorphisms, and another 427 are genes. The map has markers at an average density of 0.7 centimorgan, providing a resource for ready transference to physical maps and achieving one of the first goals of the Human Genome Project—a comprehensive, high-density genetic map.