IMPROVEMENT OF PRENATAL-DIAGNOSIS OF WILSON DISEASE USING MICROSATELLITE MARKERS

This paper describes a case of prenatal diagnosis for Wilson disease ( WD) carried out in an at-risk couple of Sardinian descent, following n on-directive genetic counselling. Diagnosis was obtained by using eigh t microsatellites located within or flanking the WD locus, six of whic h were 100 per cent and two 50 per cent informative. The use of severa l markers may limit the occurrence of misdiagnosis resulting from reco mbination or instability of repeats.