https://scholars.lib.ntu.edu.tw/handle/123456789/519574
標題: | HMBS mutations in chinese patients with acute intermittent porphyria | 作者: | Yang C.-C. Kuo H.-C. You H.-L. Wang J. Huang C.-C. Liu C.-Y. Lan M.-Y. Stephenson D.A. MING-JEN LEE |
公開日期: | 2008 | 卷: | 72 | 期: | 5 | 起(迄)頁: | 683-686 | 來源出版物: | Annals of Human Genetics | 摘要: | Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by partial deficiency of hydroxymethylbilane synthase (HMBS) affecting heme biosynthesis. Patients with AIP are characterized by recurrent abdominal pain, port-wine urine, and motor paresis. The disease can be provoked by changes in hormone levels, drugs and fasting. Molecular analysis for twenty-four unrelated Chinese AIP patients from Taiwan identified twenty-five HMBS mutations. There were 10 missense (40%), four nonsense (16%), five frame-shift (20%) and six splice site (24%) mutations. More than a half (15/25, 60%) of these mutations are predicted to produce a truncated protein. Four (c.33 + 5C>A, Arg26Cys, Arg26His, Arg325X) occurred more than once among the 24 families and one individual carried two mutations in the same allele, a missense (Gly221Asp) and a splice site mutation (c.652-1G>A). Of the 25 mutations, eleven were novel (Arg149Pro, Gly218Arg, Asn322X, Gly221Asp, Pro313X, c.88-4_-16delAAGTCTCTACCCG, c.1008_1019delCAGCCTGGCCAA, c.113delT, c.88-4_-16delAAGTCTCTACCCGinsCA, c.160delA, c.902_909delTCCCTGCC). No correlation between genetic defect and phenotype (both clinical and biochemical) was observed in this study. ? 2008 The Authors Journal compilation ? 2008 Blackwell Publishing Ltd/University College London. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-49449091689&doi=10.1111%2fj.1469-1809.2008.00463.x&partnerID=40&md5=f9125a13d60d18f178565751c8a76cc1 https://scholars.lib.ntu.edu.tw/handle/123456789/519574 |
ISSN: | 0003-4800 | DOI: | 10.1111/j.1469-1809.2008.00463.x | SDG/關鍵字: | arginine; asparagine; drug; glycine; heme; hormone; porphobilinogen deaminase; proline; abdominal pain; acute intermittent porphyria; adolescent; adult; allele; article; autosomal dominant disorder; Chinese; clinical article; controlled study; diet restriction; disease association; enzyme deficiency; family study; female; frameshift mutation; gene mutation; genetic disorder; heme synthesis; human; male; missense mutation; nonsense mutation; paresis; phenotype; priority journal; recurrent disease; Taiwan; urine color; Adolescent; Adult; Asian Continental Ancestry Group; Base Sequence; DNA; DNA Mutational Analysis; Female; Humans; Hydroxymethylbilane Synthase; Male; Mutation; Porphyria, Acute Intermittent; Taiwan |
顯示於: | 醫學系 |
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