Identification of a Missense Mutation in the Factor VIII Gene of a Mild Hemophiliac
- 13 June 1986
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 232 (4756) , 1415-1416
- https://doi.org/10.1126/science.3012775
Abstract
DNA probes derived from the cloned factor VIII gene can be used to detect mutations in the factor VIII gene of hemophiliacs. DNA hybridization analysis led to the identification of two contrasting point mutations in the same codon. In a severe hemophiliac with no detectable factor VIII activity, the normal arginine codon (number 2307) is converted to a stop codon, while in a mild hemophiliac with 10 percent of normal activity, this same codon is converted to glutamine.Keywords
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