MutaGEL® COLLAGEN (AS) PCR KIT
INTENDED USE
The MutaGEL® Collagen (AS) PCR kit allows the detection of the regulatory variant (G to T mutation, Sp1 polymorphism) in intron 1 of the type1 alpha1 collagen gene (COL1A1) encoding for the alpha 1 (I) protein chain of type I collagen, the major protein of the bone.
INTRODUCTION
Type 1 α 1- Collagen is the major protein of bone and it`s structure is essential for the development of osteoporosis. In several clinical studies an influence of the naturally 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 allel (pathogen) transfers the disease factor independend and also additional to the variability of other genetic factors involved in alteration of whole osteoporotic risk (f. e. mutations in receptors for calcitonin, vitamin D3 or estrogen). The more frequent allel has protective properties.
PRINCIPLE OF THE TEST
MutaGEL® Collagen (AS) PCR kit
The MutaGEL® Collagen (AS) PCR kit is an amplification refractionary mutation system (ARMS) containing two sets of primers for both allelspecific sequences within the human collagen gene COL1A1. The allel 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 gelelectrophoretic methods. If there is no specific allel-product detectable, the correct PCR procedure is proved by an 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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