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Mutation screening by a combination of biotin-SSCP and direct sequencing

Lookup NU author(s): Professor John LoughlinORCiD


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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.

Publication metadata

Author(s): Virdi AS, Loughlin JA, Irven CM, Goodship J, Sykes BC

Publication type: Article

Publication status: Published

Journal: Human Genetics

Year: 1994

Volume: 93

Issue: 3

Pages: 287-90

Print publication date: 01/03/1994

ISSN (print): 0340-6717

Publisher: Springer


DOI: 10.1007/BF00212024

Notes: Case Reports Journal Article Research Support, Non-U.S. Gov't Germany


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