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Gene Chips Help Uncover Causes of Genetic Disorders

September 17th, 2008 Medgadget Editors Genetics

Researchers from the University of Washington have identified a region in the 1q21.1 chromosome, the aberrations of which causes a wide range of genetic disorders in children. The journal Nature has a short article that profiles the business and clinical implications of microarrays, devices that can detect the variations of the sequence of DNA.
A teaser:

Microarrays are glass slides embedded with fragments of DNA selected from entire genomes. Scientists can detect abnormalities in a patient’s DNA — such as losses or gains of hundreds or a thousand bases — by comparing it with the normal material on the microarray. These deletions or duplications, also called copy-number changes, can change the dosage of a gene. They were invisible to older techniques such as karyotype analysis and fluorescence in situ hybridization, both of which involve examining whole chromosomes.
Over the past two years, microarray-based DNA comparisons have become routine in clinics around the world. Microarray supplier Agilent, based in Santa Clara, California, estimates that the worldwide market in this form of microarray analysis approaches US$200 million and is growing rapidly.

More from Nature…
University of Washington press release: Researchers associate aberrations in a specific region of chromosome 1q21.1 with a broad range of disorders and levels of impairment in children…

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Medical technologies transform the world! Join us and see the progress in real time. At Medgadget, we report the latest technology news, interview leaders in the field, and file dispatches from medical events around the world since 2004.

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