MutaGEL® Collagen (AS) PCR Assay


The Eagle Biosciences MutaGEL® Collagen test kit allows the detection of the regulatory variant (G→T mutation, Sp1-polymorphism) in intron 1 of the type 1 alpha 1 collagen gene (COL1A1) encoding for the alpha 1 (I) protein chain of type I collagen, the major protein of the bone. The Eagle Biosciences MutaGEL® Collagen is for research use only and is not intended for diagnostic or therapeutic procedures.

SKU: KE09012 Categories: ,

MutaGEL® Collagen (AS) PCR Assay

For Research Use Only

Size: 24 Samples
Method: PCR (allel specific)
Sample Type: DNA (e.g.whole blood, cheek swab)
Sample Size: 200 µL

Product manufactured in Germany by Immundiagnostik

Additional Information

Assay Background

Type 1 α 1- Collagen is the major protein of bone and its structure is essential for the development of osteoporosis. In several clinical studies, an influence of the natural variation of the DNA sequence from collagenase protein was shown. The pathogen variant results in lower mineral density of bone – especially for femoral neck and lumbar spine. Therefore the osteoporotic fracture risk increases with age in patients carrying this gene variant. The investigated COL1A1- polymorphism is biallelic and changes a regulatory binding site (for the transcription factor Sp1). The more rare allele (pathogen) transfers the disease factor independent and also additional to the variability of other genetic factors involved in alteration of whole osteoporotic risk (e. g. mutations in receptors for calcitonin, vitamin D3 or estrogen). The more frequent allele has protective properties.

Assay Principle

The Eagle Biosciences MutaGEL® Collagen (AS) kit is an amplification refractionary mutation system (ARMS) containing two sets of primers for both allele-specific sequences within the human collagen gene COL1A1. The allele-specific primers can be used directly for PCR with extracted DNA and generate amplificates only in case of presence of one from both sequence possibilities (normal or pathogen). The resulting amplification products are subsequently identified with gel electrophoretic methods. If there is no specific allele-product detectable, the correct PCR procedure is proved by internal control. The present genotype of unknown samples is interpreted by detection of corresponding DNA-amplificates for normal- and pathogenconstellation in two separate lanes of the gel (method by Dr. Essrich, Biologisches Labor, Denzlingen).


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