Human Genome Mapping

Edited by Karen Young Kreeger K.H. Buetow, J.L. Weber, S. Ludwigsen, T. Scherpbier-Heddema, G.M. Duyk, V.C. Sheffield, Z. Wang, J.C. Murray, "Integrated human genome-wide maps constructed using the CEPH reference panel,"

July 8, 1996

Edited by Karen Young Kreeger
K.H. Buetow, J.L. Weber, S. Ludwigsen, T. Scherpbier-Heddema, G.M. Duyk, V.C. Sheffield, Z. Wang, J.C. Murray, "Integrated human genome-wide maps constructed using the CEPH reference panel," Nature Genetics, 6:391-3, 1994. (Cited in more than 140 publications as of June 1996)

Comments by Kenneth H. Buetow, Fox Chase Cancer Center, Philadelphia

USER-FRIENDLY: Maps of human genetic markers integrate the work of many labs, according to Fox Chase's Kenneth Buetow.
The value of linkage maps of the human genome to various biomedical disciplines is becoming increasingly evident to researchers. These maps-based on inheritance patterns of linked genes-have been generated by a number of groups participating in the worldwide Human Genome Project, including the National Institutes of Health's National Center for Human Genome Research (NCHGR) in Bethesda, Md., and the Centre d'Etude Polymorphisme Humain (CEPH) in Paris.

This paper represents one of the earliest attempts to integrate genetic markers from the CEPH panel into a unified reference map, remarks Kenneth H. Buetow, leader of the human genetics working group at the Fox Chase Cancer Center in Philadelphia. The CEPH panel is a collection of DNA samples taken from 61 families, 43 of whom are from Salt Lake City. The DNA panel was established by Jean Dausset, a geneticist at CEPH, in the mid-1980s to provide the gene-mapping community with DNA from an ideal collection of families for use in linkage studies. "Using common DNA resources, such as from these families, is one of the best ways of generating integrated maps," notes Buetow.

The map-composed of restriction fragment length polymorphism (RFLP)- and polymerase chain reaction (PCR)-based markers-was produced under the auspices of the Cooperative Human Linkage Center (CHLC), a project funded by NCHGR. "CHLC was established to generate a collection of user-friendly, PCR-formatted markers and integrated maps that included those markers along with other markers from the genome community," he explains.

He calls the Nature Genetics paper a "forerunner" of another paper published in Science (J.C. Murray et al., 265:2049-54, 1994). The Science paper, cited in more than 120 articles as of June 1996, adds more than 2,500 markers to the linkage map.

Buetow maintains that the continued interest shown by the scientific community in these maps stems from their universal applicability. "Human gene mapping is an increasingly important activity in a variety of different disciplines: cancer genetics, cardiovascular genetics, congenital malformations, and metabolic diseases, for example," he states.

For his part, Buetow applies these maps to cancer genetics, particularly liver and lung cancer. "We're trying to find genetic susceptibility loci associated with these cancers."

He says another reason the paper might be so highly cited is that CHLC researchers were "very open" with the maps. "Many were given to investigators for their own use prior to the Nature Genetics and Science publications," he remarks. "The maps, and the data associated with them, are also easily accessible electronically [].

"We're continuing to do genetic mapping," says Buetow. "One of the interesting ironies of the human genetic map at this point is that, while we have more than 10,000 loci on the map, we have less than 500 genes. This means that each chromosome has a dense collection of anonymous genetic landmarks, but very few of these landmarks have an identified function or are known to code for a gene product." He adds that "significant work is still required to annotate the genetic map with genes."

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