Hopkins is first US institution to obtain powerful genotyping system

otide polymorphism, or SNP (pronounced "snip"). Several million SNPs already are known.

Geneticists have successfully correlated SNPs or other mutations with the incidence of some rare diseases such as cystic fibrosis. But determining genetic contributors to and causes of such common diseases as cancer has been a difficult, piecemeal process because these conditions involve multiple genetic changes that combine to affect health or disease.

"This genotyping technology lets you rapidly survey what amounts to the entire human genome for regions linked to a condition, and then, separately, to delve into the fine detail of very small regions of DNA to figure out what's really happening," says Scott.

With the appropriate controls and experimental set-up by trained technicians, the system determines the genotypes of all the samples and produces a score that rates the accuracy of the result.

"These genotypes can then be correlated with patient characteristics, health, tissue type or whatever it is you're studying," says Aravinda Chakravarti, Ph.D., director of the McKusick-Nathans Institute. "Instead of spending years just to get genotype information across the genome, now we can spend our time analyzing the data, looking for multiple genes rather than finding them one at a time. With this system we're well on our way to being able to do large-scale studies of complex human genetic diseases and to investigating the biological basis of individuals' susceptibility to disease."

The Illumina system's BeadArray technology uses dimpled fiberoptic strands in bundles no thicker than a pencil lead, each holding tens of thousands of tiny beads. Each bead is labeled with one of up to 1,300 DNA tags to unmask the version of a specific SNP in the sample. The fiberoptic bundles are then arrayed as in a 96-well plate.

The new facility will be housed at the Johns Hopkins Bayvie

Contact: Joanna Downer
Johns Hopkins Medical Institutions

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