LINKAGE ANALYSIS OF UNKNOWN GENETIC DISEASES

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Genetic linkage analysis was performed in the following three autosomal dominant disorders : (1) familial cataracts ; (2) Camurati-Engelmann disease ; and (3) paroxysmal kinesigenic chorcoathetosis (PKC). The familial cataract is a new type of cataract observed in a family where 10 members are affected, Engelmann disease was found in two families in which a total of 17 members are affected, and PKC is a disease observed in three unrelated families where a total of 24 members are affected. After obtaining "informed consent', DNA samples were collected from the family members. DNA was amplified by PCR for 450 microsatellite marker loci, in order to know genotypes of the loci and parent-child transmission patterns. As results, the familial cataract locus is linked to chromosome 20 at a 33.9-cM region with the maximum lod score (Zmax) of 3.61 (theta = 0.00), while the Engelmann disease locus maps to another chromosome at a 26.3-cM region (region B) with Zmax of 5.78 (theta = 0.00, p = 0.90), and the PKC locus is assigned to a 17.3-cM region (region C) with Zmax of 6.077 (theta = 0.00, p = 0.90). The chromosomal localizations in these disorders provides useful positional information for further positional cloning of the disease genes.