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

A C-->T transition at nucleotide 9168 of COL1A1 genomic sequence (GenBank A F017178) was found in three unrelated patients, during the search for OI ca usal mutations. This polymorphic variant was then tested in the general pop ulation by TaqI restriction of genomic DNA amplified with a specifically de signed restriction enzyme sire-generating oligonucleotide primer. Allelic f requencies were found to be: 0.88 (C allele) and 0.12 (T allele), respectiv ely. (C) 1999 Academic Press.