A GENE FOR DISTAL ARTHROGRYPOSIS TYPE-I MAPS TO THE PERICENTROMERIC REGION OF CHROMOSOME-9

Club foot is one of the most common human congenital malformations. Di stal arthrogryposis type I (DA-1) is a frequent cause of dominantly in herited club foot. Performing a genomewide search using short tandem r epeat (STR) polymorphisms, we have mapped a DA-1 gene to the pericentr omeric region of chromosome 3 in a large kindred. Linkage analysis has generated a positive lod score of 5.90 at theta = 0, with the marker GS-4. Multiple recombinants bracketing the region have been identified , Analysis of an additional family demonstrated no linkage to the same locus, indicating likely locus heterogeneity. Of the autosomal congen ital contracture disorders causing positional foot deformities, this i s the first to be mapped.