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Titolo:
Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria
Autore:
Maeda, N; Horie, Y; Adachi, K; Nanba, E; Kawasaki, H; Daimon, M; Kudo, Y; Kondo, M;
Indirizzi:
Tottori Univ, Fac Med, Dept Internal Med 2, Yonago, Tottori 6838503, JapanTottori Univ Yonago Tottori Japan 6838503 Yonago, Tottori 6838503, Japan Tottori Univ, Ctr Gene Res, Yonago, Tottori, Japan Tottori Univ Yonago Tottori Japan , Ctr Gene Res, Yonago, Tottori, Japan Yamagata Univ, Sch Med, Dept Internal Med 3, Yamagata 99023, Japan Yamagata Univ Yamagata Japan 99023 Internal Med 3, Yamagata 99023, Japan St Marianna Univ, Sch Med, Dept Prevent Med, Kawasaki, Kanagawa, Japan St Marianna Univ Kawasaki Kanagawa Japan Med, Kawasaki, Kanagawa, Japan Natl Inst Publ Hlth, Dept Nutr & Biochem, Tokyo, Japan Natl Inst Publ Hlth Tokyo Japan Hlth, Dept Nutr & Biochem, Tokyo, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 4, volume: 45, anno: 2000,
pagine: 263 - 268
SICI:
1434-5161(2000)45:4<263:TDMITH>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
PORPHOBILINOGEN DEAMINASE GENE; VARIEGATE PORPHYRIA; POINT MUTATION; DIAGNOSIS; EXON-12; FOUNDER; FAMILY; EXPRESSION; POPULATION; FRAMESHIFT;
Keywords:
acute intermittent porphyria (AIP); gene analysis; hydroxymethylbilane synthase (HMBS); molecular pathology; mutations;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Maeda, N Tottori Univ, Fac Med, Dept Internal Med 2, Yonago, Tottori 6838503, Japan Tottori Univ Yonago Tottori Japan 6838503 Tottori 6838503, Japan
Citazione:
N. Maeda et al., "Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria", J HUM GENET, 45(4), 2000, pp. 263-268

Abstract

Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). Regarding the abnormalities of the NMBS gene, many different mutations havebeen reported worldwide; however, few families from Japan have been studied. In this work, we investigated the presence of mutations in two unrelatedJapanese patients with AIP. Mutational analysis was performed using the polymerase chain reaction-single strand conformation polymorphism (SSCP) method, followed by DNA sequencing. Reliable restriction enzyme cleavage assayswere also established for the pedigree analyses. Unique SSCP patterns werenoted in exons 12 and 15 of the HMBS gene. Sequencing revealed different mutations in each patient: a two-base deletion of CT at nucleotide 730-731 (730delCT), and also a two-base deletion of CA at position 982-983 (982delCA). Both of the deletion mutations lead to truncated proteins with an abnormal C-terminus, which would be expected to decrease the stability and/or activity of HMBS. Using the cleavage assays, we were able to definitively identify gene carriers in the family. This study adds a novel mutation to thosethat have been previously reported, and emphasizes that molecular analysiswould be very useful not only for the identification of asymptomatic gene carriers in the family but also for the detection of ancestral founders in porphyria families.

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Documento generato il 02/04/20 alle ore 22:26:34