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

doi:10.1006/mcpr.1999.0238

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Article

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

Molecular and cellular probes - 1 Jun 1999

Mirandola S, Pignatti P F, Mottes M

Abstract excerpt

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...

Topics

Alleles
Base Sequence
DNA
Deoxyribonucleases, Type II Site-Specific
Gene Frequency
Humans
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic
Procollagen
Restriction Mapping

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Identifiers

PMID: 10369751
DOI: 10.1006/mcpr.1999.0238

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