Gene chips may speed diagnosis of genetic disease

18 May 2005

A team of scientists from Monash University in Melbourne, Australia, have developed a new technique for genetic testing of embryos, based on microarray technology. Microarrays, also known as gene chips, are systems that enable the rapid and simultaneous analysis of thousands of DNA sequences. The researchers have found that they can be used for pre-implantation genetic diagnosis (PGD) of cystic fibrosis. Cystic fibrosis (CF), an inherited disease that affects the lungs and digestive system, is the most common life-shortening genetic disorder in the UK, with an overall birth prevalence of about 1 in 2500. Around 1 in 25 people carry a gene with a cystic fibrosis mutation; if a baby inherits one such gene from each parent then it will have the disease. The identification of embryos affected by and free from cystic fibrosis is one of the current uses of PGD.

The advantage of using microarrays is that multiple different mutations can be screened for at once. Although there is a single very common mutation associated with Cystic Fibrosis (the Delta F508 or