Access the full text.
Sign up today, get DeepDyve free for 14 days.
K. McColl, A. Wallace, M. Moore, G. Thompson, A. Goldberg (1982)
Alterations in haem biosynthesis during the human menstrual cycle: studies in normal subjects and patients with latent and active acute intermittent porphyria.Clinical science, 62 2
B. Grandchamp, N. Phung, M. Grelier, Y. Nordmann (1976)
The spectrophotometric determination of uroporphyrinogen I synthetase activity.Clinica chimica acta; international journal of clinical chemistry, 70 1
A. Siervi, M. Rossetti, V. Parera, K. Astrin, G. Aizencang, I. Glass, A. Batlle, R. Desnick (1999)
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.American journal of medical genetics, 86 4
S. Bottomley, H. Bonkowsky, M. Kreimer‐Birnbaum (1981)
The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay.American journal of clinical pathology, 76 2
R. Kauppinen, P. Mustajoki (1992)
Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases.Medicine, 71 1
C. Block, I. Leeuw, L. Gaal (1999)
Premenstrual attacks of acute intermittent porphyria: hormonal and metabolic aspects - a case report.European journal of endocrinology, 141 1
S. Granick, Rita Lau (1966)
The induction in vitro of the synthesis of delta-aminolevulinic acid synthetase in chemical porphyria: a response to certain drugs, sex hormones, and foreign chemicals.The Journal of biological chemistry, 241 6
G. Ribeiro, P. Marchiori, M. Hirata, I. Rebecchi, A. Ozaki, M. Nagai, M. Santos, R. Oliveira, O. Barretto (2007)
A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyriaGenetics and Molecular Biology, 30
Kauppinen Kauppinen, Mustajoki Mustajoki, Pihlaja Pihlaja, Peltonen Peltonen, Mustajoki Mustajoki (1995)
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen geneHum Mol Genet, 4
P. Ong, W. Lanyon, R. Hift, J. Halkett, Celia Cramp, Michael Moore, J. Connor (1998)
Identification of Two Novel Mutations in the Hydroxymethylbilane Synthase Gene in Three Patients from Two Unrelated Families with Acute Intermittent PorphyriaHuman Heredity, 48
C. Bonaïti‐pellié, L. Phung, Y. Nordmann (1984)
Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: a Bayesian approach.American journal of medical genetics, 19 4
Y. Floderus, PM Shoolingin‐Jordan, P. Harper (2002)
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase geneClinical Genetics, 62
A. Robreau-Fraolini, H. Puy, C. Aquaron, Catherine Bogard, M. Traoré, Y. Nordmann, R. Aquaron, J. Deybach (2000)
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphismsHuman Genetics, 107
Jin-Sung Lee, J. Lindsten, M. Anvret (1990)
Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reactionHuman Genetics, 84
Christer Andersson, S. Thunell, Y. Floderus, Charlotte Forsell, G. Lundin, M. Anvret, L. Lannfelt, Lennart Wetterberg, Folke Lithner (1995)
Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methodsJournal of Internal Medicine, 237
Kauppinen Kauppinen, Mustajoki Mustajoki (1992)
Prognosis of acute intermittent porphyria: Ocurrence of acute atacks, precipiting factors and associated diseaseMedicine (Baltimore), 71
Dana Ulbrichova-Douderova, P. Martásek (2009)
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis.Analytical biochemistry, 395 1
R. Rosipal, H. Puy, J. Lamoril, P. Martásek, Y. Nordmann, J. Deybach (1997)
Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.Scandinavian journal of clinical and laboratory investigation, 57 3
C. Greenberg, M. Hursting, B. Macik, T. Ortel, W. Kane, B. Moore (1994)
Evaluation of preanalytical variables associated with measurement of prothrombin fragment 1.2.Clinical chemistry, 40 10
Bernard Grandchamp, C. Picat, V. Mignotte, J. Wilson, K. Velde, L. Sandkuyl, Paul-Henri Roméo, Michel Goossens, Y. Nordmann (1989)
Tissue-specific splicing mutation in acute intermittent porphyria.Proceedings of the National Academy of Sciences of the United States of America, 86 2
H. Yoo, C. Warner, Chia-hsiang Chen, R. Desnick (1993)
Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.Genomics, 15 1
S. Whatley, J. Woolf, G. Elder (1999)
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutationsHuman Genetics, 104
Bernard Grandchamp, H. Verneuil, Carole Beaumont, Stany Chrétien, Olivier Walter, Y. Nordmann (1987)
Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.European journal of biochemistry, 162 1
Franco Montemuros, E. Pierro, G. Biolcati, E. Rocchi, E. Bissolotti, D. Tavazzi, G. Fiorelli, M. Cappellini (2001)
Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy.Blood cells, molecules & diseases, 27 6
G. Scobie, David Llewellyn, A. Urquhart, S. Smyth, N. Kalsheker, P. Harrison, George Elder (1990)
Acute intermittent porphyria caused by a C→T mutation that produces a stop codon in the porphobilinogen deaminase geneHuman Genetics, 85
A. Gregor, X. Schneider-Yin, U. Szlendak, A. Wettstein, A. Lipniacka, U. Rüfenacht, E. Minder (2002)
Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyriaHuman Mutation, 19
M. Hrdinka, H. Puy, Pavel Martásek (2006)
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.Physiological research, 55 Suppl 2
Sheena Greene-Davis, P. Neumann, O. Mann, M. Moss, W. Schreiber, J. Welch, G. Langley, Vergilio Sangalang, G. Dempsey, B. Nassar (1997)
Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect.Clinical biochemistry, 30 8
Luis Salazar, M. Hirata, S. Cavalli, Marcos Machado, R. Hirata (1998)
Optimized procedure for DNA isolation from fresh and cryopreserved clotted human blood useful in clinical molecular testing.Clinical chemistry, 44 8 Pt 1
G. Ribeiro, P. Marchiori, Paula Puglia, M. Nagai, M. Santos, K. Nonoyama, M. Hirata, O. Barretto (2002)
Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patientsJournal of Clinical Laboratory Analysis, 16
Shinji Susa, M. Daimon, T. Kato, N. Maeda (2013)
A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria.Blood cells, molecules & diseases, 51 2
D. Llewellyn, N. Kalsheker, P. Harrison, C. Picat, P. Romeo, G. Elder, O. Marsh, B. Grandchamp, Y. Nordmann, M. Goossens (1987)
DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIAThe Lancet, 330
(1995)
The porphyrias. In: The metabolic and molecular bases of inherited disease
R. Medenica, G. Lazović, T. Huschart, S. Mukerjee, P. Long, W. Corbitt, D. Powell (1997)
Polypeptide levels increase during acute onset of hepatic porphyrias.Cellular and molecular biology, 43 1
Jin-Sung Lee, M. Anvret, J. Lindsten, L. Lannfelt, P. Gellerfors, L. Wetterberg, Y. Floderus, S. Thunell (1988)
DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyriaHuman Genetics, 79
X. Gu, F. Rooij, E. Baar, M. Bruyland, W. Lissens, Y. Nordmann, B. Grandchamp (1993)
Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.Human molecular genetics, 2 10
W. Law, K. Choy, C. Lam (1999)
Novel single nucleotide polymorphism (9678G-->A) for linkage analysis of acute intermittent porphyria.Clinical chemistry, 45 2
W. Schreiber, F. Fong, B. Nassar, A. Jamani (1995)
Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyriaHuman Genetics, 96
V. Brancaleoni, F. Granata, A. Colancecco, D. Tavazzi, M. Cappellini, E. Pierro (2012)
Seven novel genetic mutations within the 5'UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria.Blood cells, molecules & diseases, 49 3-4
L. Peterson, P. Hamernyik, T. Bird, R. Labbé (1976)
Erythrocyte uroporphyrinogen I synthase activity in diagnosis of acute intermittent porphyria.Clinical chemistry, 22 11
M. Daimon, K. Yamatani, M. Igarashi, N. Fukase, A. Ogawa, M. Tominaga, H. Sasaki (1993)
Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skippingHuman Genetics, 92
D. Ulbrichová, X. Schneider-Yin, R. Mamet, V. Saudek, P. Martásek, E. Minder, N. Schoenfeld (2009)
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.Blood cells, molecules & diseases, 42 2
C. Mgone, W. Lanyon, Michael Moore, G. Louie, J. Connor (1993)
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyriaHuman Genetics, 92
H. Bonkovsky, Graham Barnard (1998)
Diagnosis of Porphyric Syndromes: A Practical Approach in the Era of Molecular BiologySeminars in Liver Disease, 18
N. Raich, Paul-Henri Roméo, A. Dubart, D. Beaupain, Michel Cohen-Solal, Michel Goossens (1986)
Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase.Nucleic acids research, 14 15
H. Puy, J. Deybach, J. Lamoril, A. Robréau, V. Silva, L. Gouya, B. Grandchamp, Y. Nordmann (1997)
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.American journal of human genetics, 60 6
W. Schreiber, C. Rozon, F. Fong, A. Jamani (1994)
Detection of polymorphisms and mutations in the porphobilinogen deaminase gene by nonisotopic SSCP.Clinical chemistry, 40 10
X. Gu, F. Rooij, G. Voortman, K. Velde, J. Deybach, Y. Nordmann, B. Grandchamp (2004)
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresisHuman Genetics, 93
D. Lahiri, J. Nurnberger (1991)
A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies.Nucleic acids research, 19 19
C. Magnussen, J. Levine, J. Doherty, J. Cheesman, D. Tschudy (1974)
A red cell enzyme method for the diagnosis of acute intermittent porphyria.Blood, 44 6
V. Surin, Yu. Luchinina, D. Selivanova, Y. Pustovoit, I. Karpova, A. Pivnik, Luk'ianenko Av, S. Kravchenko (2010)
Molecular genetic study of acute intermittent porphyria in Russia: Mutation analysis and functional polymorphism search in porphobilinogen deaminase geneRussian Journal of Genetics, 46
R. Kauppinen, S. Mustajoki, H. Pihlaja, Leena Peltonen, Pertti Mustajoki (1995)
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.Human molecular genetics, 4 2
Raili Kauppinen, L. Peltonen, Aarno Palotie, Pertti Mustajoki (1990)
RFLP analysis of three different types of acute intermittent porphyriaHuman Genetics, 85
Summary Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by a deficiency of hydroxymethylbilane synthase (HMBS). In the present study, we sought to establish a correlation between HMBS activity with the presence of mutations and polymorphisms. Enzyme activity was measured in red blood cells of four Brazilian unrelated AIP families (n = 124) and in blood donors (n = 80). The HMBS mutations in AIP family members were studied by PCR‐SSCP followed by direct sequencing. Six intragenic SNPs (1345 G>A, 1500 T>C, 2377 C>A, 2478 A>G, 3581 A>G, and 7064 C>A) were determined by PCR‐RFLP. Abnormal SSCP patterns in exons 7, 9, 12, and 15 were observed. DNA sequencing analysis revealed one nonsense mutation, R149X, two missense mutations, G111R and L338P, and one deletion, CT 730–731. All mutation carriers had lower enzyme activity. All polymorphisms, except 2377 C>A and 7064 C>A, showed no significant differences compared with previous reports. Mutation screening allowed the detection of the missense mutation, L338P, and the 730_731delCT deletion, two as yet unreported mutations in Brazilian AIP patients. Our findings also showed a high frequency of 2478 A>G and 3581 A>G polymorphism combinations suggesting that these polymorphisms contributed to enzymatic activity reduction in our study population.
Annals of Human Genetics – Wiley
Published: May 1, 2015
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.