Review of LBL Human Genome Center judged big success

January 17, 1992

By Lynn Yarris,

LBL's Human Genome Center began the new year with a two-day DOE site visit (Jan. 7-8) led by David Galas, associate director of the Office of Health and Environmental Research, who oversees DOE's involvement in the Human Genome Project. By all accounts, the extensive review was well received.

Said Sylvia Spengler, deputy director the Human Genome Center, "What I was most pleased about is that all three components of the center -- biology, instrumentation, and 'informatics' -- showed well. It was a demonstration of the cooperative interaction between biologists, engineers, and computer scientists that will make the Human Genome Project fly."

During the two day review, 24 individual presentations were made, detailing the goals of the Human Genome Center; biological issues being addressed; how fully the three components of the center are being integrated; accomplishments so far; and the research in store for 1992.

One of the most enthusiastic responses from the site reviewers came during the opening report by Jasper Rine, acting director of the center, when he discussed a plan to test the potential use of mass spectrometry as a means of sequencing DNA.

"Our calculations suggest that sequences up to 300 bases long should be analyzable with modest extensions of existing (mass spectrometry) technology," said Rine. "The challenge of sequencing by mass spectrometry is being able to resolve the mass of, for example, the 300th base from the base at 299 with sufficient precision to know if the 300th is a G, A, T, or C (guanine, adenine, thymine, or cytosine)."

Building upon the traditional strength of LBL in the field of detector design and development, Rine told the reviewers that researchers at the center expect to be able to use mass spectrometry to measure the inheritance of human genetic markers by the end of 1992. Since mass spec data can be collected in less than one second per sample, such a capability would substantially speed up the process over the electrophoresis-based techniques now being used.

Rine also told the reviewers about a collaboration initiated with the Human Genome Center at the Lawrence Livermore National Laboratory, which has the primary responsibility for mapping chromosome 19 (LBL is responsible for chromosome 21). Among other efforts, LBL and LLNL researchers will work together to make high-density genetic maps of chromosomes 19 and 21 based on "microsatellite repeat sequences" -- sequences of DNA nucleotides, such as C and A, that repeat themselves a number of times at specific locations along a chromosome and can be used as markers to identify those locations.