HUM-MOLGEN DIAGnostics/Clinical Research

28 July 1997
Canavan disease

I run a molecular genetics disgnostic service lab and offer a service for Canavan disease (aspartoacylase deficiency). This is a relatively common recessive disorder in Ashkenazi Jews where 2 mutations account for almost all CD chromosomes but very rare in other poulations. Does anyone have samples (DNA) from CD patients particularly non-Ashkenazi patients. Would you be able or willing to send me some DNA which would be very useful as control DNA to work up and validate mutation detection techniques. Best wishes

Stewart Payne
Kennedy-Galton Centre for Medical & Community Genetics
Northwick Park Hospital, Harrow, UK