[Tightly linked DNA probe for presymptomatic diagnosis and carrier detection of Wilson disease].

ABSTRACT

Haplotype analysis of the polymorphic loci, D13S26 and retinoblastoma (RB) gene which were closely linked to the gene responsible for Wilson disease (WD), was carried out to predict the presymptomatic stage or to detect carrier status in phenotypically normal sibs in 9 Chinese families with WD syndrome. By analysis of D13S26/HphI and RB/XbaI sites, 72% parents in these families were haplotypically heterozygote and therefore informative for linkage study. In 9 phenotypically normal sibs in these families, presymptomatic status was predicted with 99.2% confidence in 1 and excluded in 4. In the other 4 cases, 2 were unpredictable and 2 were at least heterozygote and had 50% chance of being WD homozygote, depending on which chromosome they have got from their fathers.