Rapid and efficient genotype analysis of the COL1a1 Sp1 binding site dimorphism, a genetic marker for bone mineral density.
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
Mirandola
S
S
Section of Biology and Genetics, Dept. of Mother and Child, Biology and Genetics, University of Verona, Italy.
Sangalli
A
A
Mottes
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M
D001665:Binding Sites; D015519:Bone Density / Q000235:genetics*; D003094:Collagen / Q000235:genetics* / Q000378:metabolism*; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D005819:Genetic Markers; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic; D016329:Sp1 Transcription Factor / Q000378:metabolism*
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D017931:DNA Primers; D005819:Genetic Markers; D016329:Sp1 Transcription Factor; D003094:Collagen