Detection of seven point mutations in the porphobi...[Hum Genet. 1992 Sep-Oct]

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1: Hum Genet. 1992 Sep-Oct;90(1-2):12-6.Links

Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.

Mgone CS, Lanyon WG, Moore MR, Connor JM.

Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.

Direct cDNA sequencing has been performed on asymmetrically amplified transcripts from the human porphobilinogen deaminase gene. Lymphocytes from 30 patients with acute intermittent porphyria were the source of mRNA; of the seven separate point mutations detected, three were silent, whereas four resulted in amino acid changes. Three of these changes involved highly conserved amino acids, and the remaining one a conserved charge. One of these mutations was predicted to cause structural alterations in the protein product. The application of this method to affected families allows the direct identification of these heterogeneous mutations, thus permitting the unequivocal detection of carriers.

PMID: 1427766 [PubMed - indexed for MEDLINE]

Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria. [Hum Genet. 1993]
A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria. [Jpn J Hum Genet. 1995]
Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping. [Hum Genet. 1993]
ReviewThe three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria. [Protein Sci. 1994]
ReviewMolecular basis of acute intermittent porphyria. [Mol Med Today. 1995]

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Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. [Am J Hum Genet. 1997]
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria. [J Med Genet. 1995]
ReviewMolecular genetics of disorders of haem biosynthesis. [J Clin Pathol. 1993]

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Detection of seven point mutations in the porphobilinogen deaminase gene in patients with ...Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.

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Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.

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Cited by PubMed Central articles

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