New insight into genetic disease : the role of trinucleotide repeat expansions

Abstract

The development of genetics in the last few decades is replete with surprise phenomena and new findings. One such phenomenon is the trinucleotide repeat expansion, a new type of mutation first discovered in 1991. These genetic diseases usually appear late in life and show the unusual phenomenon of anticipation in which the disease appears earlier and increases in severity in subsequent generations. In the present age of molecular genetics all physicians must be informed and educated about the implications of genetic diseases. Equally, there must be appropriate facilities for genetic testing and counselling and it is the responsibility of health authorities to ensure that such facilities are available and adequate.