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Osteoporosis

REF 70-01

(Instructions for use)

Diagnostic kit for estimating of genetic predisposition to osteoporosis.

According to the World Health Organization (WHO), osteoporosis ranks fourth place among noninfectious pathologies after cardiovascular disorders, cancer and diabetes mellitus.

Osteoporosis (OP) is a common multifactorial disease characterized by progressive decrease of bone mineral density (BMD), reduced bone weight (BW), and deteriorating micro architecture of trabecules, accompanied by increased risk of bone fractures. Osteoporosis is dangerous because quite often it arises and long time progresses in latent form and is diagnosed only after crisis.

Osteoporosis affects ca. 75 million people in Europe, USA and Japan. For year 2000, there occur ca. 9 million new cases of osteoporotic fractures, of which 1.6 million are hip fractures, 1.7 million are forearm and 1.4 million clinical vertebral fractures. Europe and both Americas accounted for 51% of all these fractures, while most of the rest occurred in the Western Pacific region and Southeast Asia.

Osteoporosis is a typical multifactor disease, that arises from interaction of hereditary (genetic) factors and adverse environmental conditions.
Osteoporosis kit is intended for the determination of genes VDR and Col1A1 associated with osteoporosis onset.

Principle of method

Assay principle is based on simultaneous detection of polymorphisms in VDR and Col1A1 genes by means of multiplex PCR with subsequent restriction and polyacrylamide gel electrophoresis.

Investigated material: the DNA sample

Working range of method: single nucleotide polymorphism (SNP)

Simultaneous detection of 4 SNPs:
  • -1997G/T (rs1107946) and +1245G/Ò (rs1800012) SNP in Col1A1 gene
  • -3731A/G (rs11568820) and +61968Ò/Ñ (rs731236) SNP in VDR gene

Kit characteristics

General procedure:
  1. PCR
  2. Enzymatic cleavage of PCR products
  3. Polyacrylamide gel electrophoresis and the subsequent visualisation in passing UV
Quantity of reactions: 100 (40 patient samples)
Time:
  • min – 6 hours
  • max – 24 hours

Storage conditions: -18 °Ñ – -22 °Ñ

Shelf life: 6 months