Collagen is a fundamental component of bone tissue, tendons and skin. There are several types of collagen, being collagen type 1 alpha 1 one of this types. Translocations between chromosomes 17 (where this gene is located) and chromosome 22 are associated with particular types of skin tumors called dermatofibrosarcomas. Mutations of this gene are associated with various bone diseases, such as, the osteogenesis imperfecta, Ehlers-Danlos and with the idiopathic osteoporosis.
This kit contains typing plates with dried primers mixes and PCR Master Mix for typing of polymorphism sp1 of COL1A1 gene. |