From today's AOL News on Gene mapping:
Researchers Begin Gene Mapping Project
By MIKE STOBBE
AP
ATLANTA (Aug. 10) - Atlanta-based researchers say they've begun mining a new kind of genetic data in a project that may help explain why some people are susceptible or resistant to certain diseases.
A summary of the work by Emory University researchers was released Thursday. It's being published in a scientific journal, Genome Research.
"The topic is quite exciting" and the Emory researchers are breaking new ground, said Lisa Brooks of the National Human Genome Research Institute, a federal agency. She is director of the Institute's genetic variation program.
Scientists think that in as soon as 10 years, doctors will be able to examine the DNA of newborn babies and compare it to a reference code of human DNA to make predictions about each infant's susceptibility to disease. Such information could help doctors know which medicines will work most effectively on that person if illness develops.
"We're entering an exciting new era of predictive health," said Scott Devine, an Emory assistant professor of biochemistry who co-authored the paper.
The Emory work should contribute to that, he added.
In 2000, scientists announced they had substantially finished mapping the genetic blueprint for all human cells. The breakthrough was heralded as ushering in a new era of medicine, which would -- and to some extent has -- led to new ways to test for and treat disease.
The finished human genome sequence was published in 2003, and was based on DNA from about a half-dozen people.
The mapping showed the human genome is built from billions of chemical building blocks that appear in pairs. The blocks come in four types: adenine (A), thymine (T) cystosine (C) and guanine (G).
Since then, scientists have been focused on mapping tiny variations in the genetic code of 36 additional people, in an attempt to understand why, for example, some nonsmokers develop lung cancer while some lifelong smokers never get sick.
The variations are called "snips" -- or SNPs -- an abbreviation for "single-nucleotide polymorphisms." They involve single-block replacements. That is, part of one person's genetic sequence might read A-T-C, but a SNP might replace a G for the C in the next person, resulting in A-T-G.
A federally led mapping of the SNP variations was published last year.
In the new work, Emory researchers used the SNP mappers' data, but applied a new kind of computer-based analysis to look for another type of variation called an INDEL -- for insertion and deletion polymorphism.
In an INDEL, building blocks are added or deleted, not just switched on a one-for-one basis. And an insertion or deletion can involve thousands of blocks.
INDELs represent as much as 25 percent of all genetic variations, Emory researchers said. They already have been shown to be the cause of several genetic diseases, including cystic fibrosis, Devine said.
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