Rapid and efficient genotype analysis of the COL1a1 Sp1 binding site dimorphism, a genetic marker for bone mineral density

S Mirandola; A Sangalli; M Mottes

doi:10.1006/mcpr.2001.0401

Rapid and efficient genotype analysis of the COL1a1 Sp1 binding site dimorphism, a genetic marker for bone mineral density

Mol Cell Probes. 2002 Feb;16(1):73-5. doi: 10.1006/mcpr.2001.0401.

Authors

S Mirandola¹, A Sangalli, M Mottes

Affiliation

¹ Section of Biology and Genetics, Dept. of Mother and Child, Biology and Genetics, University of Verona, Italy.

PMID: 12005451
DOI: 10.1006/mcpr.2001.0401

Abstract

A biallelic G/T polymorphism within the first intron of COL1A1 gene at a recognition site for the transcription factor Sp1 has been shown to be significantly related to bone mass and osteoporotic fracture. To date this polymorphism has been detected by conventional genomic DNA amplification followed by restriction enzyme digestion and polyacrylamide gel electrophoresis. We have designed a rapid and efficient genotyping method based on allele-specific polymerase chain reaction

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Binding Sites
Bone Density / genetics*
Collagen / genetics*
Collagen / metabolism*
Collagen Type I*
Collagen Type I, alpha 1 Chain
DNA Primers
Electrophoresis, Polyacrylamide Gel / methods
Genetic Markers
Humans
Polymerase Chain Reaction / methods*
Polymorphism, Genetic
Sp1 Transcription Factor / metabolism*

Substances

Collagen Type I
Collagen Type I, alpha 1 Chain
DNA Primers
Genetic Markers
Sp1 Transcription Factor
Collagen