APPLICATION OF MOLECULAR TECHNIQUES IN MEDICAL GENETICS: LOCAL EXPERIENCE

I.F.M. Lo, T.M.F. Tong, S.T.S. Lam.

Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region

Nobody would disagree with the notion that we are living in a 'molecular' era. Nowadays molecular technology is widely available and applied in different fields such as biology, agriculture, microbiology, virology, anthropology, and medicine, etc.. Hong Kong, despite her prosperity, has always been lagging behind the western world in this respect. Nevertheless, it is getting more and more difficult to ignore this global trend. In our locality, availability of molecular techniques and technology is still largely limited to a few universities, mostly for research purposes. The Clinical Genetic Service of Department of Health, with more than ten years' experience on cytogenetics, also has started employing molecular techniques as a means of genetic investigation for about a year. Being a service centre, these techniques and technology are mainly intended to benefit our patients and their families, directly or indirectly. The limitation in resources and manpower poses significant influences as to which diseases to test and what techniques to use. We are now applying molecular techniques and technology mainly on five genetic disorders, namely Fragile X syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, Prader-Willi syndrome and Angelman syndrome. With the speed of the progress of the Human Genome Project, and hopefully better awareness among the medical profession and the general public of the importance of human genetics, the application of molecular techniques and technology is expected to extend to less common genetic disorders or common adult diseases which were considered non-genetic.


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