Development of PASA as a screening diagnostic

Dr Lam, Veronica Min Sien   (Principal Investigator)

24

1996-07-01

751116

Development of PASA as a screening diagnostic

null

N/A

AF/69/96

Industrial Support Fund

1996

Completed

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).