New PCR-Based Method for the Sp1 Site Polymorphism in the COL1A1 Gene
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Annukka Vinkanharju
Abstract
Polymorphism in the Sp1 binding site in the first intron of the COL1A1 gene has been related to increased risk of osteoporosis in several populations. To overcome the difficulties associated with the use of mismatch oligonucleotide primers in the original method for its detection, we developed a procedure involving PCR amplification of a 598-base pair sequence from the intron and its digestion with the restriction enzyme Van 91 I. The more frequent allele is recognized by the enzyme, whereas the reaction is abolished in the less frequent allele. Two convenience samples from the population in northern Finland, consisting altogether of 173 individuals, were studied. The overall frequencies were 0.864 for the G and 0.136 for the T allele, with a heterozygocity of 27.2%. The frequency of the T allele is towards the lower end of the range observed for other European populations.
Copyright © 2001 by Walter de Gruyter GmbH & Co. KG
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Articles in the same Issue
- The Impact of Cardiac Natriuretic Peptide Determination on the Diagnosis and Management of Heart Failure
- Models for Combining Random and Systematic Errors. Assumptions and Consequences for different Models
- Nucleosomes in Serum as a Marker for Cell Death
- Comparative Nuclear Magnetic Resonance Studies of Water Permeability of Red Blood Cells from Maternal Venous Blood and Newborn Umbilical Cord Blood
- Optimization of Single-Stranded Conformation Polymorphism (SSCP) Analysis for Screening for the Estrogen Receptor-α Gene Polymorphism P325P
- Serum Total Renin after Tubal Sterilization
- Oxidative Stress and Male IGF-1, Gonadotropin and Related Hormones in Diabetic Patients
- New PCR-Based Method for the Sp1 Site Polymorphism in the COL1A1 Gene
- Comparability of Serum and Plasma Concentrations of Haemostasis Activation Markers
- Importance of Validation of Immunoassays for Intact Proinsulin
- Plant Sterol-Enriched Margarine Lowers Plasma LDL in Hyperlipidemic Subjects with low Cholesterol Intake: Effect of Fibrate Treatment
- Menopause, Coronary Artery Disease and Antioxidants
- Arterial Tissue of Arsenic, Selenium and Iron in Blackfoot Disease Patients
- Evaluation of Aution Max AX-4280 Automated Urine Test-Strip Analyser
- Evaluation of Automated Enzyme Immunoassays for the Detection of Antibodies to Extractable Nuclear Antigens
- Metrological Requirements for Clinical Laboratories
