title: Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.
abstract: Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia. We confirmed a tight linkage [theta = 0.00, Z (theta) = 4.07] between the WND and ESD loci, and provided suggestive evidence for linkage [theta = 0.00, Z(theta) = 1.85] of the WND locus with D13S10. Multipoint linkage analysis indicated the following order: centromere-D13S1-D13S10-WND-ESD-D13S2. RFLP analysis at these two loci in our families allowed us either to define the carrier status (50%) or to exclude the homozygous state (25%) in the great majority of unaffected sibs.
authors.affiliation: Istituto di Medicina Interna, Università degli Studi di Cagliari, Genova, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Figus
authors.forename: R
authors.initials: R
authors.lastname: Lampis
authors.forename: M
authors.initials: M
authors.lastname: Devoto
authors.forename: M S
authors.initials: MS
authors.lastname: Ristaldi
authors.forename: A
authors.initials: A
authors.lastname: Ideo
authors.forename: S
authors.initials: S
authors.lastname: de Virgilis
authors.forename: A M
authors.initials: AM
authors.lastname: Nurchi
authors.forename: A
authors.initials: A
authors.lastname: Corrias
authors.forename: R
authors.initials: R
authors.lastname: Corda
authors.forename: M E
authors.initials: ME
authors.lastname: Lai
mesh_terms: D002882:Chromosomes, Human, Pair 13; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length