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r-Vitamin D3 PCR Assay

Details for Product No. ABIN2648722, Supplier: Log in to see
Gene
Application
Polymerase Chain Reaction (PCR)
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Purpose The MutaGEL® r-Vitamin D3 test kit allows the detection of the codon changing DNA variability (start codon polymorphism) in the gene of vitamin D3 receptor (VD3R) which encodes for the corresponding protein involved in calcium metabolism.
Brand MutaGEL®
Sample Type DNA
Characteristics Vitamin D3 (cholecalciferol) receptor is a protein involved in the regulation of blood calcium levels and also in bone turnover processes. Sequence analysis detected a frequently amino acid changing variability in the vitamin D3 receptor gene (due to a second ATG triplet three codons before). This start codon polymorphism alters vertebral bone fracture frequency of elderly persons, although in different populations to a different extend.
Comment

MutaGEL® r-vitamin D3 contains a set of primers for amplification of the specific DNA sequence within the human vitamin D3 receptor gene VD3R. Amplificates of varying genotypes (start codon polymorphism) are characterized by subsequent specific restriction enzyme digestion. The rare variant (f, pathogenic) possesses a restriction site for the specific endonuclease, whereas the major variant (F, protective) does not. The amplified products obtained from the pathogenic DNA variant will therefore be cut into two fragments, whereas the protective DNA variant will not be cut. The identification of the existing genotype from the patient is done by subsequent analysis of the DNA fragments by gelelectrophoretic methods (Dr. Essrich, Biologisches Labor, Denzlingen).

Sample Volume 200 μL
Restrictions For Research Use only
Storage -20 °C