A novel intragenic polymorphism within the COL1A1 locus which can be detected by Taq I restriction of amplified genomic DNA.

A C-->T transition at nucleotide 9168 of COL1A1 genomic sequence (GenBank AF017178) was found in three unrelated patients, during the search for OI causal mutations. This polymorphic variant was then tested in the general population by Taq I restriction of genomic DNA amplified with a specifically designed restriction enzyme site-generating oligonucleotide primer. Allelic frequencies were found to be: 0.88 (C allele) and 0.12 (T allele), respectively.