Identification of five novel mutations in the porphobilinogen deaminase gene
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Date
1994
Authors
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Journal ISSN
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Publisher
Human molecular genetics
Abstract
We have studied the porphobilinogen deaminase gene transcripts from seven unrelated patients from the West of Scotland, all suffering from acute intermittent porphyria. This was achieved by reverse transcription and PCR amplification of mRNA followed by asymmetric amplification and direct sequencing. Five novel and two previously described mutations were identified and found to be single base substitutions. Of the five novel mutations, three were missense (R116Q, T2691, G274R) and two were nonsense (Q204 Stop, W283 Stop). Using Escherichla coll PBGD as a model, it is possible to predict and explain the deleterious effects that these mutations might have on the function and structure of the enzyme.
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Keywords
Five novel mutations, Porphobilinogen deaminase gene
Citation
S. Mgone, C., Lanyon, W.G., R. Moore, M., Louie, G.V. and Connor, J.M., 1994. Identification of five novel mutations in the porphobilinogen deaminase gene. Human molecular genetics, 3(5), pp.809-811.