ASSIGNMENT OF CONGENITAL CATARACT VOLKMANN TYPE (CCV) TO CHROMOSOME LP36

Congenital cataract, type Volkmann (McKusick no 115665, gene symbol CC V) is an autosomal dominant eye disease. The disease is characterized by a progressive, central and zonular cataract, with opacities both in the embryonic, fetal and juvenile nucleus and around the anterior and posterior Y-suture. We examined blood samples from 91 members of a Da nish pedigree comprising 426 members, by using highly informative shor t tandem repeat polymorphisms and found the closest linkage of the dis ease gene (CCV) to a (CA)(n) dinucleotide repeat polymorphism at locus D1S243 (Zmax = 14.04 at theta(M) = 0.025 theta(F) = 0.000), at a pene trance of 0.90. Using two additional chromosome 1 markers, we were abl e to map the CCV gene in the sequence 1pter-(CCV, D1S243)-D1S468-D1S21 4. The (enolase 1) gene has been mapped to this area; however, a mutat ion described in this gene did not give eye disease.