GeneWatch . . . from UPI

By JOE GROSSMAN, UPI Science News  |  Nov. 1, 2002 at 10:31 AM
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Finding genes that cause disease could happen 10 to 50 times faster if a new three-year, $100-million effort succeeds, gene researcher David Altshuler, of Massachusetts General Hospital and Whitehead Institute in Boston, told UPI's GeneWatch. Scientists will be identifying large blocks of DNA called haplotypes, a technique Altshuler helped pioneer at Whitehead, where some of the new work will be done. There are two or three haplotype blocks for every gene and these usually are passed on from generation to generation with almost no change. In 90 percent of humans, there appear to be no more than five variations of each haplotype block at each haplotype location. At present, in one of the steps of searching for genetic variations that cause disease, scientists must narrow the search to millions of nucleotides. Haplotype research will enable researchers, with the same amount of work, to narrow their search to the 10,000 to 20,000 pairs of nucleotides that make up a haplotype. Then the search for specific molecular differences can be started with thoughts of formulating a therapeutic drug.


A genetically engineered mouse that can develop three types of cancers of the lymph system consistently has been created by scientists at the Jonsson Cancer Center at the University of California, Los Angeles. Until now, no proven animal model has existed for three types of B-cell lymphoma: Burkitt-like lymphoma, diffuse large B-cell lymphoma and follicular center cell lymphoma. The scientists inserted genetic material for the human T-cell leukemia 1 gene, TCL1, into a fertilized mouse egg and implanted it in a female mouse. Many of that mouse's descendants now carry the gene. The gene appears to exert just the right amount of influence to produce the lymphomas at the right point in B-cell maturation -- a goal that has eluded researchers until now. The scientists said they are hopeful the mice will be useful in testing new cancer therapies and this will lead to effective treatments for humans.


The autoimmune disease lupus is much more likely to affect a person with a specific genetic variation, researchers at the University of Uppsala in Sweden reported in the October issue of Nature Genetics. With just one different nucleotide change in the programmed cell death 1 gene, PDCD1 -- sometimes called PD1 -- many ethnic groups showed greater chance of having systemic lupus erythematosus. The researchers studied 2500 people, including 1000 patients and their relatives and controls. Among families with more than one case of lupus, Scandinavian families with the altered PDCD1 had 5.3 times greater risk of having lupus, Mexican families had 3.5 times greater risk and Americans of European descent had 2.2 times greater risk. Americans of African descent did not show any increased risk even with the altered form of the gene. "The gene may lead to the understanding on how to better treat patients with lupus and why some patients may be refractory to treatment," lead researcher Marta E. Alarcón-Riquelme told UPI's GeneWatch.


Smokers who are trying to quit might have a lot more trouble if their CYP2B6 gene shows low activity, researchers at the Abramson Institute at the University of Pennsylvania Cancer Center in Philadelphia report. People with a slow CYP2B6 appeared to crave cigarettes more and be 50 percent more likely to relapse. The drug bupropion, sold under the brand name Zyban, could attenuate these effects, especially among women, the study of 424 smokers found. Additional research ultimately might enable practitioners to select the optimal type and dose of medication for individual smokers, the researchers said. The research appears in the November issue of Pharmacogenetics.

(EDITORS: For more information on HAPLOTYPE, contact Seema Kumar at 617-252-1420 or For LYMPHOMA, Kim Irwin 310-206-2805 or For LUPUS, Marta Alarcón in Sweden at +46-18-471-4805 or For SMOKERS, Olivia Fermano at 215-349-5653 or

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