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Mutation screening by a combination of biotin-SSCP and direct sequencing
A S Virdi1, J A Loughlin, C M Irven
1University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, UK.
Human Genetics
|March 1, 1994
Abstract:
We have developed a mutation detection strategy that combines single strand conformational polymorphism (SSCP) analysis of one strand of a double-stranded amplification product with direct sequencing of the other. Using this strategy, which we find economical of both time and resources, we have identified a G to A transition, which substitutes a serine for glycine residue at position 862 in the major helix of the alpha 1 chain of Type I collagen. We use this mutation, which causes a lethal form of osteogenesis imperfecta, to illustrate the technique.