Subtelomeric意思

"Subtelomeric" is a term used in genetics that refers to the region of a chromosome that lies next to, or adjacent to, the telomere. Telomeres are the protective caps at the ends of chromosomes that help maintain the integrity of the genetic material. The subtelomeric region is the part of the chromosome that is closest to the telomere but is not part of the telomere itself.

In human genetics, the subtelomeric region is of interest because it is known to contain genes and other regulatory elements that are important for the function of the chromosome. These regions are also hotspots for genetic variation, including copy number variations (CNVs), which are deletions or duplications of DNA segments that can have implications for human health and disease.

Subtelomeric regions are often studied in the context of genetic disorders, particularly those that are caused by CNVs. Because these regions are prone to variation, they can be a source of genetic material that is missing or duplicated in individuals with certain genetic diseases. Testing for subtelomeric abnormalities is sometimes included in genetic screens for individuals with developmental disabilities or congenital anomalies, as these abnormalities can be difficult to detect using standard genetic testing methods.