Development of PASA as a screening diagnostic
Dr Lam, Veronica Min Sien (Principal investigator)
HKU Project Code
Industrial Support Fund
G6PD deficiency represents the most common human enzymopathy, the clinical manifestations of which are generally triggered by the environment. Hence the affected/at risk need to be diagnosed and counselled. We aim to develop a simple amplification system which will selectively amplify the appropriate allele(s) under defined conditions. This method depends on the use of designed oligonucleotides, but when developed, it will provide a simple diagnostic for screening the G6PD genotype of newborns in Hong Kong, south China and many southeast Asian countries. This detection system could be further developed as a diagnostic kit. When detail structure-function relationship of G6PD becomes available, the G6PD genotype information will enable health personnel to predict the severity of the disease when triggered by particular environment agent(s).