Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
نویسندگان
چکیده
We have detected four different mutations in the porphobilinogen deaminase (PBGD) gene in acute intermittent porphyria (AIP) families from England, Norway, and Sweden. A splicing mutation in the first position of intron 8 (Int8 + 1) was found in a family from England and a missense mutation in exon 12 (Glu250) was detected in a Norwegian family. Two mutations were identified in Swedish families, one splicing mutation in the first position of intron 3 (Int3 + 1) and one missense mutation in exon 8 (Pro119).
منابع مشابه
Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.
The occurrence of different porphobilinogen deaminase mutant types in 68 patients with acute intermittent porphyria from 33 unrelated families in Finland was studied with biochemical and immunological techniques. In this fairly homogenous population four different porphobilinogen deaminase mutant types were identified and their frequencies determined. Most (about 80%) of the mutations were cros...
متن کاملMay 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the porphobilinogen deaminase (PBGD) gene. This paper reviews published mutations, their types, and polymorphisms within the PBGD gene. To date, 301 different mutations and 21 polymorphisms have been identified in the PBGD gene in AIP patients and individuals from various cou...
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Patients with acute intermittent porphyria can be subdivided into three groups, according to the porphobilinogen deaminase activity in their erythrocytes. The first group has lowered, the second overlapping and the third normal porphobilinogen deaminase activity. Of 385 acute intermittent porphyria patients 5% had normal porphobilinogen deaminase activity. Gene carriers of acute intermittent po...
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An inherited deficiency of porphobilinogen deaminase [porphobilinogen ammonia-lyase (polymerizing), EC 4.3.1.8] in humans is responsible for the autosomal dominant disease acute intermittent porphyria. Different classes of mutations have been described at the protein level suggesting that this is a heterogeneous disease. It was previously demonstrated that porphobilinogen deaminase is encoded b...
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References 1. Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited diseases, 7th ed. New York: McGraw-Hill, 1995:2103–60. 2. Wassif WS, Deacon AC, Floderus Y, Thunell S, Peters TJ. Acute intermittent porphyria: diagnostic conundrums. Eur J Clin Chem Clin Biochem 1994;32:915–21. 3. Mustajoki ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 32 12 شماره
صفحات -
تاریخ انتشار 1995