THE p53 gene has been a constant source of fascination since its discovery nearly a decade
ago 1,2 . Originally considered to be an oncogene, several convergent lines of research …

Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by
features reminiscent of marked premature ageing 1 , 2 . Here, we present evidence of …

Chromosomal fragile sites are specific loci that preferentially exhibit gaps and breaks on
metaphase chromosomes following partial inhibition of DNA synthesis. Their discovery has led …

Menkes disease is an X–linked recessive disorder of copper metabolism resulting in death
in early infancy. The gene has been mapped to band Xq13 based, in part, on a translocation …

DEFECTS in the NF1 gene have been implicated in the inherited disorder neurofibromatosis
type 1, which is characterized by several developmental abnormalities including an …

Aphidicolin, a specific inhibitor of DNA polymerase α, is known to induce chromosomal
aberrations. At concentrations that did not greatly affect mitotic index, aphidicolin induced a …

Conditions that partially inhibit DNA replication induce expression of common fragile sites.
These sites form gaps and breaks on metaphase chromosomes and are deleted and …

Lymphedema-distichiasis (LD) is an autosomal dominant disorder that classically presents
as lymphedema of the limbs, with variable age at onset, and double rows of eyelashes (…

NEUROFIBROMATOSIS type 1 (NF1) is a common autosomal dominant disorder with a high
mutation rate and variable expression, characterized by neurofibromas, café-au-lait spots, …

Individuals with neurofibromatosis type 1 (NF1) have an increased risk of developing benign
and malignant tumours. The NF1 gene is thought to be a tumour suppressor gene, yet no …