| Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction. | |
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MedLine Citation:
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PMID: 9214248 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Most known mutations in the gene associated with Wilson disease are rare. Only the His1069Gln mutation is found often in patients of Northern or Eastern European origin. OBJECTIVE: To examine the frequency of the His1069Gln mutation in Austrian patients with Wilson disease and their families by using a new, rapid polymerase chain reaction (PCR) test. DESIGN: Cross-sectional study. SETTING: University medical center. PATIENTS: 83 patients from 72 families and 98 relatives of 11 homozygous index patients. MEASUREMENTS: Results of a semi-nested PCR-based assay to detect the His1069Gln mutation in Wilson disease, clinical symptoms, and liver histologic findings. RESULTS: 20 patients, including 5 siblings, were homozygous for the His1069Gln mutation. Thirty-three patients, including 4 siblings, were compound heterozygotes. The mutation was not detected in 30 patients, including 2 siblings. Homozygotes were older at onset of symptoms (mean age, 24 +/- 6 years) than compound heterozygotes (17 +/- 6 years [95% CI, 3.3 to 10.7 years]; P = 0.0135) and patients with other mutations (18 +/- 8 years [CI, 1.8 to 10.2 years]; P = 0.117). Homozygotes were more often female (73.3%) than were compound heterozygotes (48% [CI, 0.94% to 2.46%]) and patients with other mutations (50% [CI, 0.91% to 2.37%]) (P = 0.05). Four of 98 asymptomatic relatives of 11 homozygous index patients were also homozygotes. Heterozygosity was confirmed in 46 relatives (19 parents, 11 children, and 16 distant relatives). CONCLUSION: The His1069Gln mutation was detected in 61% of Austrian patients with Wilson disease. Polymerase chain reaction may be useful for diagnosis and screening of family members of homozygous index patients, even if first-degree relatives are not available for examination. |
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Authors:
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T Maier-Dobersberger; P Ferenci; C Polli; P Balać; H P Dienes; K Kaserer; C Datz; W Vogel; A Gangl |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Annals of internal medicine Volume: 127 ISSN: 0003-4819 ISO Abbreviation: Ann. Intern. Med. Publication Date: 1997 Jul |
Date Detail:
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Created Date: 1997-07-03 Completed Date: 1997-07-03 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0372351 Medline TA: Ann Intern Med Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 21-6 Citation Subset: AIM; IM |
Affiliation:
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Department of Internal Medicine IV, Gastroenterology and Hepatology, University of Vienna, Austria. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Austria Female Hepatolenticular Degeneration / diagnosis, genetics*, pathology Heterozygote Homozygote Humans Linkage (Genetics) Liver / pathology Male Pedigree Point Mutation* Polymerase Chain Reaction / methods* |
| Comments/Corrections | |
Comment In:
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Ann Intern Med. 1997 Jul 1;127(1):70-2
[PMID:
9214255
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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