What is fragile site?

Fragile Sites are specific regions on chromosomes that display an increased susceptibility to breakage or rearrangement under certain conditions. They are regions of the genome that are prone to gaps, breaks, and modifications due to their structural instability. Fragile Sites are characterized by highly repetitive DNA sequences and are susceptible to DNA damage from environmental or internal sources such as radiation and chemicals.

There are two main categories of fragile sites: common fragile sites and rare fragile sites. Common fragile sites are observed in all individuals and are often located near telomeres or centromeres of chromosomes. Rare fragile sites, on the other hand, are relatively uncommon and are usually associated with particular genetic disorders.

Fragile Sites are linked to various genetic disorders including some types of cancer, developmental abnormalities, and intellectual disabilities. Researchers continue to study fragile sites to better understand their mechanisms, pathways, and related diseases. This information could potentially help to improve diagnosis, treatment, and prevention of genetic disorders in the future.