Improvement of prenatal diagnosis of wilson disease using microsatellite markers |
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| Authors: | G Loudianos A L Figus A Loi A Angius V Dessì M Deiana S De Virgiliis G Monni A Cao M Pirastu MD |
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| Institution: | 1. Ospedale Regionale per le Microcitemie USL 21, Cagliari, Italy;2. Istituto di Medicina Interna Clinica Medica I, Università degli Studi di Cagliari, Italy;3. Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, Cagliari, Italy;4. Istituto di Clinica e Biologia dell' Età Evolutiva, Universitá degli Studi di Cagliari, Italy |
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| Abstract: | This paper describes a case of prenatal diagnosis for Wilson disease (WD) carried out in an at-risk couple of Sardinian descent, following non-directive genetic counselling. Diagnosis was obtained by using eight microsatellites located within or flanking the WD locus, six of which were 100 per cent and two 50 per cent informative. The use of several markers may limit the occurrence of misdiagnosis resulting from recombination or instability of repeats. |
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| Keywords: | Wilson disease haplotype analysis microsatellite markers |
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