Mutation screening and genotype-phenotype correlation in 32 families with Wilson disease
| العنوان: | Mutation screening and genotype-phenotype correlation in 32 families with Wilson disease |
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| المؤلفون: | Antoon Vandenberghe, Alain Lachaux, Michèle Accominotti, Muriel Bost |
| المصدر: | The Journal of Trace Elements in Experimental Medicine. 12:321-329 |
| بيانات النشر: | Wiley, 1999. |
| سنة النشر: | 1999 |
| مصطلحات موضوعية: | Genetics, Haplotype, Locus (genetics), Single-strand conformation polymorphism, Biology, Chronic liver disease, medicine.disease, Biochemistry, Molecular biology, Exon, medicine, Polymorphic Microsatellite Marker, Missense mutation, Gene |
| الوصف: | Wilson disease (WD) is an autosomal recessive disorder of copper transport, manifesting as chronic liver disease and/or neurologic impairment due to accumulation of copper in several tissues, principally the liver and the brain. The WD gene encodes a copper transporting P-type ATPase that is defective in this affection. In this study, we performed DNA haplotype analysis using five polymorphic microsatellite markers (D13S295, D13S314, D13S301, D13S296, D13S316) flanking the WD locus, mutational screening on 10 exons (5, 7, 8, 9, 12, 14, 15, 17, 18, 19) by SSCP and direct sequencing in 32 WD families with hepatic and/or neurologic forms. We found nine mutations (two frameshifts, one nonsense, five missense mutations, and one in an intron), four of which were novel. The data were used to make presymptomatic diagnosis and detect carriers among siblings in the pedigrees concerned, improving genetic counselling and disease management. In addition, we tried to find a genotype-phenotype correlation in our patients. J. Trace Elem. Exp. Med. 12:321–329, 1999. © 1999 Wiley-Liss, Inc. |
| تدمد: | 1520-670X 0896-548X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::dbea9b145fe06a82288d44a923ccb6a2Test https://doi.org/10.1002Test/(sici)1520-670x(1999)12:4<321::aid-jtra5>3.0.co;2-y |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........dbea9b145fe06a82288d44a923ccb6a2 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1520670X 0896548X |
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