What is the function of chromosome 2?
Chromosome 2 likely contains 1,200 to 1,300 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.
What are chromosome 2 traits?
The following diseases and traits are related to genes located on chromosome 2:
- 2p15-16.1 microdeletion syndrome.
- Alport syndrome.
- Alström syndrome.
- Amyotrophic lateral sclerosis.
- Congenital hypothyroidism.
- Crigler-Najjar types I/II.
- Dementia with Lewy bodies.
What is chromosome deficiency?
These disorders occur when there are missing, extra, or irregular parts of a person’s chromosomal DNA. When associated with immune deficiency, chromosomal disorders may be linked to Down syndrome, CHARGE syndrome, DiGeorge Syndrome, and Cornelia de Lange syndrome, abnormalities of chromosomes 8 or 18.
What chromosome number is 2?
Chromosome 2 is the second largest of the 46 chromosomes found in human cells. Chromosome 2 spans 243 million base pairs and makes up around 8% of the total DNA present within our cells. The base pairs are the DNA building blocks and are tightly packed, coiled and super coiled to form the structure of the DNA helix.
What is the meaning of deficiency in chromosome?
Meaning of Deficiency in Chromosome: The term deficiency was coined by Bridges in 1917. It may be defined as a structural change resulting in the loss of a terminal acentric chromosome, chromatid or sub-chromatid segment and as a result, loss of the genetic information contained in this segment.
Where is the telomere located in a deficiency?
In case of terminal deficiency, the lost chromosome segment includes the chromosome end, i.e., telomere, while the chromosome end remains intact in intercalary deletions and a chromosome segment located between the centromere and the telomere is lost (Fig. 12.1).
What are the characteristics of rare chromosome disorders?
There are general characteristics of rare chromosomal disorders that occur to varying degrees in most affected people. For instance, some degree of learning disability and/or developmental delay will occur in most people with any loss or gain of material from chromosomes 1 through 22.
Where did the human chromosome 2 come from?
According to researcher Jacob W. Ijdo, “We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2.”.