what is the gene or chromosome info for dwarfism?

One Comment

1. nan says:

   December 26, 2009 at 9:36 am

   Mutations in the SLC26A2 and COL2A1 genes cause achondrogenesis types 1B and 2, respectively. The genetic cause of achondrogenesis type 1A is unknown. Achondrogenesis, also known as dwarfism.

   Achondrogenesis type 1B is the most severe skeletal disorder caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of achondrogenesis type 1B.

   Achondrogenesis type 2 is one of several skeletal disorders that result from mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). It is essential for the normal development of bones and other tissues that form the body’s supportive framework (connective tissues). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.