Affymetrix Inc. launched GeneChip human mitochondrial resequencing array 2.0, enabling researchers to analyse the entire sequence of the mitochondrial genome in a single 48 hour experiment. The new micro-array interrogates all 16,500 bases of the human mitochondrial genome with only three polymerase chain reactions (PCR), providing scientists with the most efficient and cost-effective method for detecting variants associated with genetic disease, forensics, population studies or stem cells.

"We get sequence data from the Affymetrix GeneChip human mitochondrial array about ten times faster than we do with conventional methods. Using the array in our studies of complex mitochondrial disease, we have discovered five known pathogenic mutations and more than 70 previously unknown genetic variations in patients, which allow us to explain the pathology in about 25 per cent of the patients. The whole-genome approach is helping us to understand this disease at a level of detail never before possible," said Bert Smeets, associate professor of Genetics at Maastricht University.

"There's an obvious increase in the number of mutations that can be detected with the second generation GeneChip mitochondrial array. To date, we've sequenced about 85 head-neck tumours with matching white blood cell DNA from those patients. So far, we've found a pretty impressive somatic mutation rate of close to 50 per cent in these tumours," said Joseph Califano, associate professor of otolaryngology at Johns Hopkins University

"The robust Affymetrix GeneChip human mitochondrial resequencing array 2.0 provides a complete picture of variation in the mitochondrial genome, while significantly reducing the time, labour and cost involved in sample preparation. We anticipate that access to complete sequence information for mitochondria on a single array will lead to new discoveries in a wide range of fields including disease genetics, forensic identification and population genetics," said Greg Yap, vice president of DNA products at Affymetrix.

Mutations of mitochondrial DNA can lead to a number of illnesses including neurodegenerative and other degenerative disorders, sudden infant death syndrome and multiple cancer types. The Affymetrix mitochondrial array provides complete sequence information and enables the detection of both known and novel mutations in the mitochondrial genome associated with these complex diseases.

The GeneChip human mitochondrial array 2.0 interrogates the entire 16kb mitochondrial genome and enables the detection of known and novel mutations. The sequence was selected from the MITOMAP Revised Cambridge Reference Sequence (RCRS) database.

Affymetrix scientists invented the world's first high-density micro-array in 1989 and began selling the first commercial micro-array in 1994.